ACTUALIZACIÓN MÉDICO-CONTINUADA EN GENÉTICA APLICADA ► Food, nutrition, and metabolism - Genetics Home Reference [NUEVO CAPÍTULO MÉDICO 2016]

Food, nutrition, and metabolism - Genetics Home Reference

Food, nutrition, and metabolism

Metabolism is the total of all chemical changes that take place in a cell or an organism. These changes produce energy and basic materials needed for important life processes. Some disorders of metabolism have a strong genetic component.

• 2-alpha-methyl-3-hydroxybutyricacidemia see beta-ketothiolase deficiency
• 2-HGA see 2-hydroxyglutaric aciduria
• 2-hydroxyglutaric aciduria
• 2-MBADD see 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-MBCD deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-MBG see 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl-coenzyme A dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
• 2-methylbutyryl glycinuria see 2-methylbutyryl-CoA dehydrogenase deficiency
• 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• 3-alpha-ketothiolase deficiency see beta-ketothiolase deficiency
• 3-alpha-ktd deficiency see beta-ketothiolase deficiency
• 3-alpha-oxothiolase deficiency see beta-ketothiolase deficiency
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-hydroxyacyl-CoA dehydrogenase deficiency
• 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• 3-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• 3-Ketothiolase deficiency see beta-ketothiolase deficiency
• 3-MCC see 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonyl-coenzyme A carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylcrotonylglycinuria see 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconic aciduria type 2 see Barth syndrome
• 3-methylglutaconic aciduria, type I see 3-methylglutaconyl-CoA hydratase deficiency
• 3 methylglutaconic aciduria, type II see Barth syndrome
• 3-methylglutaconyl-CoA hydratase deficiency
• 3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
• 3-MG-CoA-hydratase deficiency see 3-methylglutaconyl-CoA hydratase deficiency
• 3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3-oxoacid CoA transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
• 3HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• 3MCC see 3-methylcrotonyl-CoA carboxylase deficiency
• 4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
• 4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
• 5-oxoprolinemia see glutathione synthetase deficiency
• 5-oxoprolinuria see glutathione synthetase deficiency
• 17-beta-hydroxysteroid dehydrogenase IV deficiency see D-bifunctional protein deficiency
• 18-hydroxylase deficiency see corticosterone methyloxidase deficiency
• 18-oxidase deficiency see corticosterone methyloxidase deficiency
• AADC deficiency see aromatic l-amino acid decarboxylase deficiency
• AB variant see GM2-gangliosidosis, AB variant
• abetalipoproteinemia
• AC deficiency see Farber lipogranulomatosis
• ACADM deficiency see medium-chain acyl-CoA dehydrogenase deficiency
• ACADS deficiency see short-chain acyl-CoA dehydrogenase deficiency
• ACADVL see very long-chain acyl-CoA dehydrogenase deficiency
• acanthocytosis see abetalipoproteinemia
• acatalasemia
• acatalasia see acatalasemia
• acid ceramidase deficiency see Farber lipogranulomatosis
• Acid lipase deficiency see Wolman disease
• acid maltase deficiency see Pompe disease
• Activator Deficiency/GM2 Gangliosidosis see GM2-gangliosidosis, AB variant
• Activator-deficient Tay-Sachs disease see GM2-gangliosidosis, AB variant
• ACY2 deficiency see Canavan disease
• acyl-CoA dehydrogenase very long chain deficiency see very long-chain acyl-CoA dehydrogenase deficiency
• acylsphingosine deacylase deficiency see Farber lipogranulomatosis
• ADA deficiency see adenosine deaminase deficiency
• ADA-SCID see adenosine deaminase deficiency
• adenosine deaminase deficiency
• adenylosuccinase deficiency see adenylosuccinate lyase deficiency
• adenylosuccinate lyase deficiency
• ADSL deficiency see adenylosuccinate lyase deficiency
• African iron overload
• AGA deficiency see aspartylglucosaminuria
• AGL deficiency see glycogen storage disease type III
• AKU see alkaptonuria
• alactasia see lactose intolerance
• alcaptonuria see alkaptonuria
• ALDOB deficiency see hereditary fructose intolerance
• aldolase B deficiency see hereditary fructose intolerance
• aldosterone deficiency see corticosterone methyloxidase deficiency
• aldosterone synthase deficiency see corticosterone methyloxidase deficiency
• ALG1-CDG see ALG1-congenital disorder of glycosylation
• ALG1-congenital disorder of glycosylation
• ALG6-CDG see ALG6-congenital disorder of glycosylation
• ALG6-congenital disorder of glycosylation
• alkaptonuria
• Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis see Alpers-Huttenlocher syndrome
• Alpers disease see Alpers-Huttenlocher syndrome
• Alpers-Huttenlocher syndrome
• Alpers progressive infantile poliodystrophy see Alpers-Huttenlocher syndrome
• Alpers syndrome see Alpers-Huttenlocher syndrome
• alpha-1,4-glucosidase deficiency see Pompe disease
• alpha-aminoadipic semialdehyde deficiency disease see hyperlysinemia
• alpha-D-mannosidosis see alpha-mannosidosis
• Alpha-fucosidase deficiency see fucosidosis
• alpha-galactosidase A deficiency see Fabry disease
• alpha-galactosidase B deficiency see Schindler disease
• alpha-galNAc deficiency, Schindler type see Schindler disease
• alpha-LCAT deficiency see fish-eye disease
• alpha-lecithin:cholesterol acyltransferase deficiency see fish-eye disease
• alpha-mannosidase B deficiency see alpha-mannosidosis
• alpha-mannosidase deficiency see alpha-mannosidosis
• alpha-mannosidosis
• alpha-Methylacetoacetic aciduria see beta-ketothiolase deficiency
• alpha-methylacyl-CoA racemase deficiency
• alpha-N-acetylgalactosaminidase deficiency see Schindler disease
• alpha-NAGA deficiency see Schindler disease
• AMACR deficiency see alpha-methylacyl-CoA racemase deficiency
• AMD see Pompe disease
• aminoacylase 2 deficiency see Canavan disease
• amylopectinosis see glycogen storage disease type IV
• Andersen disease see glycogen storage disease type IV
• Andersen glycogenosis see glycogen storage disease type IV
• Anderson disease see chylomicron retention disease
• Anderson-Fabry disease see Fabry disease
• Anderson syndrome see chylomicron retention disease
• angiokeratoma corporis diffusum see Fabry disease
• angiokeratoma corporis diffusum-glycopeptiduria see Schindler disease
• angiokeratoma diffuse see Fabry disease
• ANS see ataxia neuropathy spectrum
• Apolipoprotein B deficiency see abetalipoproteinemia
• Arakawa syndrome 1 see glutamate formiminotransferase deficiency
• ARG1 deficiency see arginase deficiency
• arginase deficiency
• Argininemia see arginase deficiency
• Argininosuccinate lyase deficiency see argininosuccinic aciduria
• argininosuccinic aciduria
• argininosuccinyl-CoA lyase deficiency see argininosuccinic aciduria
• arginosuccinase deficiency see argininosuccinic aciduria
• aromatic l-amino acid decarboxylase deficiency
• ASA see argininosuccinic aciduria
• ASL deficiency see argininosuccinic aciduria
• Aspa deficiency see Canavan disease
• aspartoacylase deficiency see Canavan disease
• aspartylglucosamidase deficiency see aspartylglucosaminuria
• Aspartylglucosaminidase deficiency see aspartylglucosaminuria
• aspartylglucosaminuria
• aspartylglycosaminuria see aspartylglucosaminuria
• ataxia neuropathy spectrum
• ataxia with lactic acidosis see pyruvate dehydrogenase deficiency
• ataxia with vitamin E deficiency
• AUH defect see 3-methylglutaconyl-CoA hydratase deficiency
• autoimmune diabetes see type 1 diabetes
• AVED see ataxia with vitamin E deficiency
• B variant GM2 gangliosidosis see Tay-Sachs disease
• Barth syndrome
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BBGD see biotin-thiamine-responsive basal ganglia disease
• BCKD deficiency see maple syrup urine disease
• Berardinelli-Seip congenital lipodystrophy see congenital generalized lipodystrophy
• Berardinelli-Seip syndrome see congenital generalized lipodystrophy
• beta-alanine synthase deficiency see beta-ureidopropionase deficiency
• beta-D-mannosidosis see beta-mannosidosis
• Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
• beta-ketothiolase deficiency
• beta-mannosidase deficiency see beta-mannosidosis
• beta-mannosidosis
• beta-sitosterolemia see sitosterolemia
• beta-ureidopropionase deficiency
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• BH4 deficiency see tetrahydrobiopterin deficiency
• bifunctional peroxisomal enzyme deficiency see D-bifunctional protein deficiency
• BIOT see biotinidase deficiency
• biotin-responsive basal ganglia disease see biotin-thiamine-responsive basal ganglia disease
• biotin-thiamine-responsive basal ganglia disease
• biotinidase deficiency
• BKT see beta-ketothiolase deficiency
• BMCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
• Bonneau-Beaumont syndrome see hyperferritinemia-cataract syndrome
• branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
• branched-chain ketoaciduria see maple syrup urine disease
• brancher deficiency see glycogen storage disease type IV
• branching enzyme deficiency see glycogen storage disease type IV
• bronze diabetes see hereditary hemochromatosis
• bronzed cirrhosis see hereditary hemochromatosis
• Brunzell syndrome (with bone cysts) see congenital generalized lipodystrophy
• BSCL see congenital generalized lipodystrophy
• BTBGD see biotin-thiamine-responsive basal ganglia disease
• BTD deficiency see biotinidase deficiency
• BTHS see Barth syndrome
• Burger-Grutz syndrome see familial lipoprotein lipase deficiency
• butyrylcholinesterase deficiency see pseudocholinesterase deficiency
• CACT deficiency see carnitine-acylcarnitine translocase deficiency
• Canavan disease
• carbamoyl phosphate synthetase I deficiency
• carbamyl-phosphate synthetase I deficiency disease see carbamoyl phosphate synthetase I deficiency
• carbohydrate-deficient glycoprotein syndrome type Ia see PMM2-congenital disorder of glycosylation
• carbohydrate-deficient glycoprotein syndrome type Ic see ALG6-congenital disorder of glycosylation
• carbohydrate deficient glycoprotein syndrome type Ik see ALG1-congenital disorder of glycosylation
• carbohydrate-deficient glycoprotein syndrome type V see ALG6-congenital disorder of glycosylation
• carbohydrate intolerance see glucose-galactose malabsorption
• carbonic anhydrase XII deficiency see isolated hyperchlorhidrosis
• carboxylase deficiency, multiple, late-onset see biotinidase deficiency
• cardioskeletal myopathy with neutropenia and abnormal mitochondria see Barth syndrome
• carnitine-acylcarnitine translocase deficiency
• carnitine palmitoyltransferase I deficiency
• carnitine palmitoyltransferase II deficiency
• carnitine transporter deficiency see primary carnitine deficiency
• carnitine uptake defect see primary carnitine deficiency
• carnitine uptake deficiency see primary carnitine deficiency
• catalase deficiency see acatalasemia
• CBG deficiency see corticosteroid-binding globulin deficiency
• CDG Ia see PMM2-congenital disorder of glycosylation
• CDG syndrome type Ic see ALG6-congenital disorder of glycosylation
• CDG1a see PMM2-congenital disorder of glycosylation
• CDG1C see ALG6-congenital disorder of glycosylation
• CDG1K see ALG1-congenital disorder of glycosylation
• CDG1M see DOLK-congenital disorder of glycosylation
• CDGIc see ALG6-congenital disorder of glycosylation
• CDGIk see ALG1-congenital disorder of glycosylation
• CDGS1a see PMM2-congenital disorder of glycosylation
• CDS see Chanarin-Dorfman syndrome
• celiac disease
• ceramidase deficiency see Farber lipogranulomatosis
• ceramide trihexosidase deficiency see Fabry disease
• cerebral cholesterinosis see cerebrotendinous xanthomatosis
• cerebroside lipidosis syndrome see Gaucher disease
• cerebrotendinous xanthomatosis
• CESD see cholesteryl ester storage disease
• Chanarin-Dorfman syndrome
• childhood myocerebrohepatopathy spectrum
• cholestanol storage disease see cerebrotendinous xanthomatosis
• cholesterol ester hydrolase deficiency see cholesteryl ester storage disease
• cholesterol ester storage disease see cholesteryl ester storage disease
• cholesteryl ester storage disease
• cholinesterase II deficiency see pseudocholinesterase deficiency
• chronic progressive external ophthalmoplegia see progressive external ophthalmoplegia
• chylomicron retention disease
• CIT see citrullinemia
• citrullinemia
• classic galactosemia see galactosemia
• CMO deficiency see corticosterone methyloxidase deficiency
• CMRD see chylomicron retention disease
• Cohen syndrome
• complete LCAT deficiency
• complex carbohydrate intolerance see glucose-galactose malabsorption
• complex IV deficiency see cytochrome c oxidase deficiency
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital deficiency of the leptin receptor see leptin receptor deficiency
• congenital disorder of glycosylation type 1K see ALG1-congenital disorder of glycosylation
• congenital disorder of glycosylation type Ia see PMM2-congenital disorder of glycosylation
• congenital disorder of glycosylation type Ic see ALG6-congenital disorder of glycosylation
• congenital disorder of glycosylation, type Im see DOLK-congenital disorder of glycosylation
• congenital enteropathy see microvillus inclusion disease
• congenital familial protracted diarrhea with enterocyte brush-border abnormalities see microvillus inclusion disease
• congenital generalized lipodystrophy
• congenital hyperammonemia, type I see carbamoyl phosphate synthetase I deficiency
• congenital hypoaldosteronism see corticosterone methyloxidase deficiency
• congenital icthyosis mental retardation spasticity syndrome see Sjögren-Larsson syndrome
• congenital leptin deficiency
• Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
• Congenital lysinuria see lysinuric protein intolerance
• congenital microvillous atrophy see microvillus inclusion disease
• congenital oxaluria see primary hyperoxaluria
• congenital sucrase-isomaltase deficiency
• copper storage disease see Wilson disease
• Copper transport disease see Menkes syndrome
• Cori disease see glycogen storage disease type III
• corticosteroid-binding globulin deficiency
• corticosterone methyloxidase deficiency
• COX deficiency see cytochrome c oxidase deficiency
• CPEO see progressive external ophthalmoplegia
• CPT 1A deficiency see carnitine palmitoyltransferase I deficiency
• CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
• CPT I deficiency see carnitine palmitoyltransferase I deficiency
• CPT II deficiency see carnitine palmitoyltransferase II deficiency
• CPT2 deficiency see carnitine palmitoyltransferase II deficiency
• CSID see congenital sucrase-isomaltase deficiency
• CTX see cerebrotendinous xanthomatosis
• CUD see primary carnitine deficiency
• cystathionine beta synthase deficiency see homocystinuria
• cystine storage disease see cystinosis
• cystinosis
• cytochrome c oxidase deficiency
• D-bifunctional protein deficiency
• D-glycerate dehydrogenase deficiency see primary hyperoxaluria
• dairy product intolerance see lactose intolerance
• Davidson disease see microvillus inclusion disease
• DBP deficiency see D-bifunctional protein deficiency
• DDC deficiency see aromatic l-amino acid decarboxylase deficiency
• De Vivo disease see GLUT1 deficiency syndrome
• debrancher deficiency see glycogen storage disease type III
• Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
• deficiency of 3-hydroxyacyl-CoA dehydrogenase see 3-hydroxyacyl-CoA dehydrogenase deficiency
• deficiency of 3beta-hydroxysterol delta24-reductase see desmosterolosis
• Deficiency of alkaline phosphatase see hypophosphatasia
• deficiency of alpha-glucosidase see Pompe disease
• deficiency of alpha-mannosidase see alpha-mannosidosis
• deficiency of aromatic-L-amino-acid decarboxylase see aromatic l-amino acid decarboxylase deficiency
• deficiency of beta-ureidopropionase see beta-ureidopropionase deficiency
• deficiency of butyryl-CoA dehydrogenase see short-chain acyl-CoA dehydrogenase deficiency
• deficiency of butyrylcholine esterase see pseudocholinesterase deficiency
• deficiency of cathepsin A see galactosialidosis
• Deficiency of glucose-6-phosphate dehydrogenase see glucose-6-phosphate dehydrogenase deficiency
• deficiency of glutathione synthase see glutathione synthetase deficiency
• deficiency of glutathione synthetase see glutathione synthetase deficiency
• Deficiency of hydroxymethylglutaryl-CoA lyase see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• deficiency of isobutyryl-CoA dehydrogenase see isobutyryl-CoA dehydrogenase deficiency
• deficiency of lactate dehydrogenase see lactate dehydrogenase deficiency
• deficiency of malonyl-CoA decarboxylase see malonyl-CoA decarboxylase deficiency
• Deficiency of methionine adenosyltransferase see hypermethioninemia
• Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-CoA carboxylase deficiency
• deficiency of phosphotriose isomerase see triosephosphate isomerase deficiency
• deoxyguanosine kinase deficiency
• desmosterolosis
• DGUOK-related mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency
• diabetes insipidus and mellitus with optic atrophy and deafness see Wolfram syndrome
• diabetes insipidus, diabetes mellitus, optic atrophy, and deafness see Wolfram syndrome
• diabetes mellitus, insulin-dependent see type 1 diabetes
• diabetes mellitus type 1 see type 1 diabetes
• DIDMOAD see Wolfram syndrome
• diffuse cerebral sclerosis of Schilder see Alpers-Huttenlocher syndrome
• Diffuse Globoid Body Sclerosis see Krabbe disease
• dihydrolipoamide dehydrogenase deficiency
• dihydrolipoyl dehydrogenase deficiency see dihydrolipoamide dehydrogenase deficiency
• dihydropyrimidinase deficiency
• dihydropyrimidine dehydrogenase deficiency
• dihydropyrimidinuria see dihydropyrimidinase deficiency; dihydropyrimidine dehydrogenase deficiency
• dihydrouracil amidohydrolase deficiency see dihydropyrimidinase deficiency
• disaccharide intolerance I see congenital sucrase-isomaltase deficiency
• DJS see Dubin-Johnson syndrome
• DK1 deficiency see DOLK-congenital disorder of glycosylation
• DLD deficiency see dihydrolipoamide dehydrogenase deficiency
• DNAJC19 defect see Barth syndrome
• dolichol kinase deficiency see DOLK-congenital disorder of glycosylation
• DOLK-CDG see DOLK-congenital disorder of glycosylation
• DOLK-congenital disorder of glycosylation
• dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase deficiency
• DPD deficiency see dihydropyrimidine dehydrogenase deficiency
• DPH deficiency see dihydropyrimidinase deficiency
• DPYS deficiency see dihydropyrimidinase deficiency
• Dubin-Johnson syndrome
• dyslipoproteinemic corneal dystrophy see fish-eye disease
• E3 deficiency see dihydrolipoamide dehydrogenase deficiency
• Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• Early-Onset Combined Carboxylase Deficiency see holocarboxylase synthetase deficiency
• electron transfer flavoprotein deficiency see glutaric acidemia type II
• Elevated cholesterol see hypercholesterolemia
• EMA see glutaric acidemia type II
• encephalopathy due to GLUT1 deficiency see GLUT1 deficiency syndrome
• endogenous hypertriglyceridaemia see familial lipoprotein lipase deficiency
• epimerase deficiency galactosemia see galactosemia
• ETFA deficiency see glutaric acidemia type II
• ETFB deficiency see glutaric acidemia type II
• ETFDH deficiency see glutaric acidemia type II
• ethylmalonic-adipicaciduria see glutaric acidemia type II
• Fabry disease
• FALDH deficiency see Sjögren-Larsson syndrome
• familial hemochromatosis see hereditary hemochromatosis
• familial hyperlysinemia see hyperlysinemia
• familial hyperreninemic hypoaldosteronism see corticosterone methyloxidase deficiency
• familial hypobetalipoproteinemia
• familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
• familial LCAT deficiency see complete LCAT deficiency
• familial lecithin-cholesterol acyltransferase deficiency see complete LCAT deficiency
• familial lipoprotein lipase deficiency
• familial primary hypomagnesemia with hypocalcuria see hypomagnesemia with secondary hypocalcemia
• familial protracted enteropathy see microvillus inclusion disease
• familial pyrimidemia see dihydropyrimidine dehydrogenase deficiency
• Familial Xanthomatosis see Wolman disease
• Farber lipogranulomatosis
• fatty aldehyde dehydrogenase deficiency see Sjögren-Larsson syndrome
• FED see fish-eye disease
• Fellman syndrome see GRACILE syndrome
• FHBL see familial hypobetalipoproteinemia
• FIGLU-uria see glutamate formiminotransferase deficiency
• Finnish lactic acidosis with hepatic hemosiderosis see GRACILE syndrome
• Finnish lethal neonatal metabolic syndrome see GRACILE syndrome
• fish-eye disease
• fish malodor syndrome see trimethylaminuria
• fish odor syndrome see trimethylaminuria
• FIVE see ataxia with vitamin E deficiency
• FLD see complete LCAT deficiency
• Folling Disease see phenylketonuria
• Forbes disease see glycogen storage disease type III
• formiminoglutamic aciduria see glutamate formiminotransferase deficiency
• formiminotransferase deficiency see glutamate formiminotransferase deficiency
• free sialic acid storage disease see sialic acid storage disease
• French type sialuria see sialuria
• Friedreich ataxia phenotype with selective vitamin E deficiency see ataxia with vitamin E deficiency
• Friedreich-like ataxia see ataxia with vitamin E deficiency
• fructose-1,6-biphosphate aldolase deficiency see hereditary fructose intolerance
• fructose-1-phosphate aldolase deficiency see hereditary fructose intolerance
• fructose aldolase B deficiency see hereditary fructose intolerance
• fructose intolerance see hereditary fructose intolerance
• fructosemia see hereditary fructose intolerance
• Fucosidase deficiency see fucosidosis
• fucosidosis
• Fukuhara Disease see myoclonic epilepsy with ragged-red fibers
• fumarase deficiency
• fumarate hydratase deficiency see fumarase deficiency
• fumaric aciduria see fumarase deficiency
• G1D see GLUT1 deficiency syndrome
• G6PD Deficiency see glucose-6-phosphate dehydrogenase deficiency
• G6PDD see glucose-6-phosphate dehydrogenase deficiency
• GA I see glutaric acidemia type I
• GA II see glutaric acidemia type II
• GAA deficiency see Pompe disease
• galactokinase deficiency disease see galactosemia
• galactose-1-phosphate uridyl-transferase deficiency disease see galactosemia
• galactose epimerase deficiency see galactosemia
• galactosemia
• galactosialidosis
• Galactosylceramidase Deficiency Disease see Krabbe disease
• Galactosylceramide lipidosis see Krabbe disease
• galactosylcerebrosidase deficiency see Krabbe disease
• galactosylsphingosine lipidosis see Krabbe disease
• GALB deficiency see Schindler disease
• GALC deficiency see Krabbe disease
• GALE deficiency see galactosemia
• GALK deficiency see galactosemia
• GALT deficiency see galactosemia
• Gamma-hydroxybutyric acidemia see succinic semialdehyde dehydrogenase deficiency
• gamma-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
• Gaucher disease
• GCL see Krabbe disease
• GD see Gaucher disease
• generalized lipodystrophy see congenital generalized lipodystrophy
• genetic hemochromatosis see hereditary hemochromatosis
• GGM see glucose-galactose malabsorption
• GLA deficiency see Fabry disease
• GLD see Krabbe disease
• glucocerebrosidase deficiency see Gaucher disease
• glucocerebrosidosis see Gaucher disease
• glucose-6-phosphate deficiency see glycogen storage disease type I
• glucose-6-phosphate dehydrogenase deficiency
• glucose-6-phosphate transport defect see glycogen storage disease type I
• glucose-galactose malabsorption
• glucose transport defect, blood-brain barrier see GLUT1 deficiency syndrome
• glucose transporter protein syndrome see GLUT1 deficiency syndrome
• glucose transporter type 1 deficiency syndrome see GLUT1 deficiency syndrome
• glucosyl cerebroside lipidosis see Gaucher disease
• glucosylceramidase deficiency see Gaucher disease
• glucosylceramide beta-glucosidase deficiency see Gaucher disease
• glucosylceramide lipidosis see Gaucher disease
• glucosyltransferase 1 deficiency see ALG6-congenital disorder of glycosylation
• GLUT1 deficiency syndrome
• glutamate formiminotransferase deficiency
• glutaric acidemia type I
• glutaric acidemia type II
• Glutaryl-CoA dehydrogenase deficiency see glutaric acidemia type I
• glutathione synthetase deficiency
• gluten enteropathy see celiac disease
• glyceric aciduria see primary hyperoxaluria
• glycine encephalopathy
• glycine N-methyltransferase deficiency see hypermethioninemia
• glycogen storage disease type 0
• glycogen storage disease type I
• glycogen storage disease type II see Pompe disease
• glycogen storage disease type III
• glycogen storage disease type IV
• glycogen storage disease type IX
• glycogen storage disease type VI
• glycogen storage disease type VII
• glycogenosis Type II see Pompe disease
• glycolic aciduria see primary hyperoxaluria
• glycosylasparaginase deficiency see aspartylglucosaminuria
• GM2 Activator Deficiency Disease see GM2-gangliosidosis, AB variant
• GM2-gangliosidosis, AB variant
• GM2 gangliosidosis, type 1 see Tay-Sachs disease
• GM2 gangliosidosis, type 2 see Sandhoff disease
• GM2 Gangliosidosis, Type II see Sandhoff disease
• GNMT deficiency see hypermethioninemia
• Goldberg syndrome see galactosialidosis
• GRACILE syndrome
• growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death seeGRACILE syndrome
• growth retardation-Rieger anomaly see short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• GSD 0 see glycogen storage disease type 0
• GSD I see glycogen storage disease type I
• GSD II see Pompe disease
• GSD III see glycogen storage disease type III
• GSD IV see glycogen storage disease type IV
• GSD IX see glycogen storage disease type IX
• GSD type 0 see glycogen storage disease type 0
• GSD type I see glycogen storage disease type I
• GSD type IV see glycogen storage disease type IV
• GSD type VI see glycogen storage disease type VI
• GSD VI see glycogen storage disease type VI
• GSD VII see glycogen storage disease type VII
• GSD2 see Pompe disease
• GSD3 see glycogen storage disease type III
• GSD4 see glycogen storage disease type IV
• GSD6 see glycogen storage disease type VI
• GSD7 see glycogen storage disease type VII
• GSDIX see glycogen storage disease type IX
• GTPS see GLUT1 deficiency syndrome
• gyrate atrophy of the choroid and retina
• HAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• HADH deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• HADHSC deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• haemochromatosis see hereditary hemochromatosis
• HAL deficiency see histidinemia
• HC see hereditary hemochromatosis
• Hematoporphyria see porphyria
• hemochromatosis see hereditary hemochromatosis
• hepatic AGT deficiency see primary hyperoxaluria
• hepatic glycogen phosphorylase deficiency see glycogen storage disease type VI
• hepatic lipase deficiency
• Hepatic methionine adenosyltransferase deficiency see hypermethioninemia
• hepatocerebral mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency
• hepatolenticular degeneration syndrome see Wilson disease
• hepatorenal form of glycogen storage disease see glycogen storage disease type I
• hepatorenal glycogenosis see glycogen storage disease type I
• hereditary dystopic lipidosis see Fabry disease
• hereditary fructose intolerance
• hereditary hemochromatosis
• hereditary hyperferritinemia-cataract syndrome see hyperferritinemia-cataract syndrome
• hereditary hyperferritinemia with congenital cataracts see hyperferritinemia-cataract syndrome
• hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency seetriosephosphate isomerase deficiency
• hereditary thymine-uraciluria see dihydropyrimidine dehydrogenase deficiency
• hereditary tyrosinemia see tyrosinemia
• Hers disease see glycogen storage disease type VI
• HexA deficiency see Tay-Sachs disease
• Hexosaminidase A and B Deficiency Disease see Sandhoff disease
• Hexosaminidase A deficiency see Tay-Sachs disease
• Hexosaminidase activator deficiency see GM2-gangliosidosis, AB variant
• Hexosaminidase alpha-subunit deficiency (variant B) see Tay-Sachs disease
• HFTC see hyperphosphatemic familial tumoral calcinosis
• HGPS see Hutchinson-Gilford progeria syndrome
• HH see hereditary hemochromatosis
• HHCS see hyperferritinemia-cataract syndrome
• HHH syndrome see ornithine translocase deficiency
• HIS deficiency see histidinemia
• histidase deficiency see histidinemia
• histidine ammonia-lyase deficiency see histidinemia
• histidinemia
• HL deficiency see hepatic lipase deficiency
• HLAH see hereditary hemochromatosis
• HLCS deficiency see holocarboxylase synthetase deficiency
• HMG see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• HOGA see gyrate atrophy of the choroid and retina
• holocarboxylase synthetase deficiency
• HOMG see hypomagnesemia with secondary hypocalcemia
• homocysteinemia see homocystinuria
• homocystinuria
• homogentisic acid oxidase deficiency see alkaptonuria
• homogentisic acidura see alkaptonuria
• HSH see hypomagnesemia with secondary hypocalcemia
• Hutchinson-Gilford progeria syndrome
• Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• hyperammonemia, type III see N-acetylglutamate synthase deficiency
• Hyperargininemia see arginase deficiency
• hyperbilirubinemia II see Dubin-Johnson syndrome
• hypercholesterolemia
• Hyperdibasic aminoaciduria see lysinuric protein intolerance
• hyperferritinemia-cataract syndrome
• Hyperglycinemia, Nonketotic see glycine encephalopathy
• hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia
• hyperhistidinemia see histidinemia
• hyperimidodipeptiduria see prolidase deficiency
• hyperlipidemia due to hepatic triglyceride lipase deficiency see hepatic lipase deficiency
• hyperlipoproteinemia type I see familial lipoprotein lipase deficiency
• hyperlysinemia
• hypermethioninemia
• hyperornithinemia-hyperammonemia-homocitrullinemia syndrome see ornithine translocase deficiency
• hyperornithinemia-hyperammonemia-homocitrullinuria syndrome see ornithine translocase deficiency
• hyperornithinemia with gyrate atrophy of choroid and retina see gyrate atrophy of the choroid and retina
• hyperoxaluria, primary see primary hyperoxaluria
• hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
• hyperphenylalaninemia, non-phenylketonuric see tetrahydrobiopterin deficiency
• hyperphosphatemia hyperostosis see hyperphosphatemic familial tumoral calcinosis
• hyperphosphatemia tumoral calcinosis see hyperphosphatemic familial tumoral calcinosis
• hyperphosphatemic familial tumoral calcinosis
• hyperprolinemia
• hypertyrosinaemia see tyrosinemia
• hypertyrosinemia see tyrosinemia
• hypobetalipoproteinemia see familial hypobetalipoproteinemia
• hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells seechylomicron retention disease
• hypochromic microcytic anemia with iron overload
• Hypocupremia, Congenital see Menkes syndrome
• hypoglycemia with deficiency of glycogen synthetase see glycogen storage disease type 0
• hypolactasia see lactose intolerance
• hypomagnesemia with secondary hypocalcemia
• hypomagnesemic tetany see hypomagnesemia with secondary hypocalcemia
• hypophosphatasia
• Hypotonia, obesity, and prominent incisors see Cohen syndrome
• IBD deficiency see isobutyryl-CoA dehydrogenase deficiency
• ichthyosis oligophrenia syndrome see Sjögren-Larsson syndrome
• Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
• IDDM see type 1 diabetes
• imidodipeptidase deficiency see prolidase deficiency
• Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• insulin-dependent diabetes mellitus see type 1 diabetes
• intermittent ataxia with pyruvate dehydrogenase deficiency see pyruvate dehydrogenase deficiency
• intestinal hypomagnesemia 1 see hypomagnesemia with secondary hypocalcemia
• intestinal hypomagnesemia with secondary hypocalcemia see hypomagnesemia with secondary hypocalcemia
• intractable diarrhea of infancy see microvillus inclusion disease
• iron storage disorder see hereditary hemochromatosis
• isobutyryl-CoA dehydrogenase deficiency
• isobutyryl-coenzyme A dehydrogenase deficiency see isobutyryl-CoA dehydrogenase deficiency
• isolated CoQ-cytochrome c reductase deficiency see mitochondrial complex III deficiency
• isolated hyperchlorhidrosis
• isolated methylmalonic acidemia see methylmalonic acidemia
• isovaleric acidemia
• Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidemia
• IVA see isovaleric acidemia
• IVD deficiency see isovaleric acidemia
• Jaeken syndrome see PMM2-congenital disorder of glycosylation
• Jaundice, Chronic Idiopathic see Dubin-Johnson syndrome
• JOD see type 1 diabetes
• juvenile diabetes see type 1 diabetes
• juvenile-onset diabetes see type 1 diabetes
• Kanzaki disease see Schindler disease
• kerasin histiocytosis see Gaucher disease
• kerasin lipoidosis see Gaucher disease
• kerasin thesaurismosis see Gaucher disease
• ketoacidemia see maple syrup urine disease
• ketoacidosis due to SCOT deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
• ketotic glycinemia see propionic acidemia
• ketotic hyperglycinemia see propionic acidemia
• Kinky Hair Syndrome see Menkes syndrome
• Krabbe disease
• L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• lactate dehydrogenase deficiency
• lactic acidosis due to LAD deficiency see dihydrolipoamide dehydrogenase deficiency
• lactic acidosis due to lipoamide dehydrogenase deficiency see dihydrolipoamide dehydrogenase deficiency
• lactose intolerance
• LAL deficiency see cholesteryl ester storage disease; Wolman disease
• late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• late-onset multiple carboxylase deficiency see biotinidase deficiency
• LCAT deficiency see complete LCAT deficiency
• LCATA deficiency see fish-eye disease
• LCHAD deficiency see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• LDH deficiency see lactate dehydrogenase deficiency
• lecithin acyltransferase deficiency see complete LCAT deficiency
• lecithin:cholesterol acyltransferase deficiency see complete LCAT deficiency
• LEPD see congenital leptin deficiency
• leptin deficiency see congenital leptin deficiency
• leptin receptor deficiency
• limit dextrinosis see glycogen storage disease type III
• LIPA deficiency see cholesteryl ester storage disease; Wolman disease
• lipase D deficiency see familial lipoprotein lipase deficiency
• LIPC deficiency see hepatic lipase deficiency
• LIPD deficiency see familial lipoprotein lipase deficiency
• lipid histiocytosis see Niemann-Pick disease
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-CoA dehydrogenase deficiency
• lipid transport defect of intestine see chylomicron retention disease
• lipoamide dehydrogenase deficiency see dihydrolipoamide dehydrogenase deficiency
• lipodystrophy, congenital generalized see congenital generalized lipodystrophy
• lipodystrophy, partial, with Rieger anomaly and short stature see short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• lipoid histiocytosis (kerasin type) see Gaucher disease
• lipoprotein lipase deficiency, familial see familial lipoprotein lipase deficiency
• Liposomal Acid Lipase Deficiency, Wolman Type see Wolman disease
• liver form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase I deficiency
• liver phosphorylase deficiency syndrome see glycogen storage disease type VI
• long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• LPI see lysinuric protein intolerance
• lysine alpha-ketoglutarate reductase deficiency disease see hyperlysinemia
• lysinuric protein intolerance
• lysosomal acid lipase deficiency see cholesteryl ester storage disease; Wolman disease
• lysosomal alpha B mannosidosis see alpha-mannosidosis
• lysosomal alpha-D-mannosidase deficiency see alpha-mannosidosis
• lysosomal beta A mannosidosis see beta-mannosidosis
• lysosomal beta-mannosidase deficiency see beta-mannosidosis
• lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum see Schindler disease
• lysosomal protective protein deficiency see galactosialidosis
• M/SCHAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• MAD see glutaric acidemia type II
• malonic aciduria see malonyl-CoA decarboxylase deficiency
• malonyl-CoA decarboxylase deficiency
• malonyl-coenzyme A decarboxylase deficiency see malonyl-CoA decarboxylase deficiency
• mandibuloacral dysplasia
• mannosidosis see alpha-mannosidosis
• mannosyltransferase 1 deficiency see ALG1-congenital disorder of glycosylation
• maple syrup urine disease
• maple syrup urine disease, type III see dihydrolipoamide dehydrogenase deficiency
• MAT deficiency see beta-ketothiolase deficiency; hypermethioninemia
• MCAD deficiency see medium-chain acyl-CoA dehydrogenase deficiency
• MCADD see medium-chain acyl-CoA dehydrogenase deficiency
• MCADH deficiency see medium-chain acyl-CoA dehydrogenase deficiency
• MCC deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
• MCD deficiency see malonyl-CoA decarboxylase deficiency
• MCHS see childhood myocerebrohepatopathy spectrum
• medium-chain acyl-CoA dehydrogenase deficiency
• MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• MEMSA see myoclonic epilepsy myopathy sensory ataxia
• Menkea syndrome see Menkes syndrome
• Menkes syndrome
• MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
• MERRF see myoclonic epilepsy with ragged-red fibers
• MET see hypermethioninemia
• Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
• Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-CoA carboxylase deficiency
• methylmalonic acidemia
• MGA type 2 see Barth syndrome
• MGA, type I see 3-methylglutaconyl-CoA hydratase deficiency
• MGA type II see Barth syndrome
• MGA1 see 3-methylglutaconyl-CoA hydratase deficiency
• MGCA1 see 3-methylglutaconyl-CoA hydratase deficiency
• microcytic anemia and hepatic iron overload see hypochromic microcytic anemia with iron overload
• microcytic anemia with liver iron overload see hypochromic microcytic anemia with iron overload
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• microvillous atrophy see microvillus inclusion disease
• microvillous inclusion disease see microvillus inclusion disease
• microvillus inclusion disease
• milk sugar intolerance see lactose intolerance
• MIRAS see ataxia neuropathy spectrum
• Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
• Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
• mitochondrial complex III deficiency
• mitochondrial complex IV deficiency see cytochrome c oxidase deficiency
• mitochondrial DNA depletion syndrome, hepatocerebral form see deoxyguanosine kinase deficiency
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial neurogastrointestinal encephalopathy disease
• mitochondrial recessive ataxia syndrome see ataxia neuropathy spectrum
• mitochondrial trifunctional protein deficiency
• MK see Menkes syndrome
• MMA see methylmalonic acidemia
• MMDS see multiple mitochondrial dysfunctions syndrome
• MNGIE disease see mitochondrial neurogastrointestinal encephalopathy disease
• MNGIE syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• MNK see Menkes syndrome
• monosaccharide malabsorption see glucose-galactose malabsorption
• MSUD see maple syrup urine disease
• MTP deficiency see mitochondrial trifunctional protein deficiency
• multiple acyl-CoA dehydrogenase deficiency see glutaric acidemia type II
• multiple carboxylase deficiency, late-onset see biotinidase deficiency
• Multiple Carboxylase Deficiency, Neonatal Form see holocarboxylase synthetase deficiency
• multiple FAD dehydrogenase deficiency see glutaric acidemia type II
• multiple mitochondrial dysfunctions syndrome
• muscle phosphofructokinase deficiency see glycogen storage disease type VII
• MVID see microvillus inclusion disease
• myoclonic epilepsy myopathy sensory ataxia
• myoclonic epilepsy with ragged-red fibers
• myoencephalopathy ragged-red fiber disease see myoclonic epilepsy with ragged-red fibers
• Myoneurogastrointestinal encephalopathy syndrome see mitochondrial neurogastrointestinal encephalopathy disease
• myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• N-acetylglutamate synthase deficiency
• N-acetylneuraminic acid storage disease see sialic acid storage disease
• NAGA deficiency see Schindler disease
• NAGS deficiency see N-acetylglutamate synthase deficiency
• NAIC see North American Indian childhood cirrhosis
• NANA storage disease see sialic acid storage disease
• NARP see neuropathy, ataxia, and retinitis pigmentosa
• neuraminidase deficiency with beta-galactosidase deficiency see galactosialidosis
• neuroaxonal dystrophy, Schindler type see Schindler disease
• neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
• neuronal axonal dystrophy, Schindler type see Schindler disease
• neuronal cholesterol lipidosis see Niemann-Pick disease
• neuronal lipidosis see Niemann-Pick disease
• neuropathy, ataxia, and retinitis pigmentosa
• neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
• neutral lipid storage disease with myopathy
• Niemann-Pick disease
• NKH see glycine encephalopathy
• NLSDM see neutral lipid storage disease with myopathy
• non-ketotic hyperglycinemia see glycine encephalopathy
• non-phenylketonuric hyperphenylalaninemia see tetrahydrobiopterin deficiency
• Nonketotic Hyperglycinemia see glycine encephalopathy
• Norio syndrome see Cohen syndrome
• North American Indian childhood cirrhosis
• Norum disease see complete LCAT deficiency
• NPD see Niemann-Pick disease
• OAT deficiency see gyrate atrophy of the choroid and retina
• obesity due to congenital leptin deficiency see congenital leptin deficiency
• obesity due to leptin receptor gene deficiency see leptin receptor deficiency
• obesity, early-onset, adrenal insufficiency, and red hair see proopiomelanocortin deficiency
• obesity-hypotonia syndrome see Cohen syndrome
• obesity, morbid, due to leptin deficiency see congenital leptin deficiency
• obesity, morbid, due to leptin receptor deficiency see leptin receptor deficiency
• obesity, morbid, nonsyndromic 1 see congenital leptin deficiency
• obesity, morbid, nonsyndromic 2 see leptin receptor deficiency
• obesity, severe, due to leptin deficiency see congenital leptin deficiency
• Oculogastrointestinal muscular dystrophy see mitochondrial neurogastrointestinal encephalopathy disease
• OGIMD see mitochondrial neurogastrointestinal encephalopathy disease
• OKT deficiency see gyrate atrophy of the choroid and retina
• ornithine aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine-delta-aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine keto acid aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine transcarbamylase deficiency
• ornithine translocase deficiency
• Ornithinemia with gyrate atrophy see gyrate atrophy of the choroid and retina
• oxalosis see primary hyperoxaluria
• oxaluria, primary see primary hyperoxaluria
• PAH deficiency see phenylketonuria
• partial LCAT deficiency see fish-eye disease
• PBFE deficiency see D-bifunctional protein deficiency
• PCC deficiency see propionic acidemia
• PD see prolidase deficiency
• PDH deficiency see pyruvate dehydrogenase deficiency
• PDHC deficiency see pyruvate dehydrogenase deficiency
• PEO see progressive external ophthalmoplegia
• Pepper syndrome see Cohen syndrome
• peptidase deficiency see prolidase deficiency
• permanent neonatal diabetes mellitus
• peroxisomal acyl-CoA oxidase deficiency
• peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
• peroxisomal bifunctional enzyme deficiency see D-bifunctional protein deficiency
• PFKM deficiency see glycogen storage disease type VII
• Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
• phenylketonuria
• PhK deficiency see glycogen storage disease type IX
• Phosphoethanolaminuria see hypophosphatasia
• phosphofructokinase deficiency see glycogen storage disease type VII
• phosphomannomutase 2 deficiency see PMM2-congenital disorder of glycosylation
• phosphorylase b kinase deficiency see glycogen storage disease type IX
• phosphorylase kinase deficiency see glycogen storage disease type IX
• phytosterolaemia see sitosterolemia
• phytosterolemia see sitosterolemia
• pigmentary cirrhosis see hereditary hemochromatosis
• PKU see phenylketonuria
• plant sterol storage disease see sitosterolemia
• PMM deficiency see PMM2-congenital disorder of glycosylation
• PMM2-CDG see PMM2-congenital disorder of glycosylation
• PMM2-congenital disorder of glycosylation
• PNDM see permanent neonatal diabetes mellitus
• POLIP see mitochondrial neurogastrointestinal encephalopathy disease
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction seemitochondrial neurogastrointestinal encephalopathy disease
• POMC deficiency see proopiomelanocortin deficiency
• Pompe disease
• porphyria
• porphyrin disorder see porphyria
• PPCA deficiency see galactosialidosis
• Prader-Labhart-Willi syndrome see Prader-Willi syndrome
• Prader-Willi syndrome
• primary 3-methylglutaconic aciduria see 3-methylglutaconyl-CoA hydratase deficiency
• primary carnitine deficiency
• primary hemochromatosis see hereditary hemochromatosis
• primary hyperoxaluria
• primary hyperphosphatemic tumoral calcinosis see hyperphosphatemic familial tumoral calcinosis
• Progeria see Hutchinson-Gilford progeria syndrome
• progressive external ophthalmoplegia
• progressive sclerosing poliodystrophy see Alpers-Huttenlocher syndrome
• prolidase deficiency
• proline oxidase deficiency see hyperprolinemia
• prolinemia see hyperprolinemia
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• proopiomelanocortin deficiency
• PROP see propionic acidemia
• propionic acidemia
• pseudo-NALD see peroxisomal acyl-CoA oxidase deficiency
• pseudo-Zellweger syndrome see D-bifunctional protein deficiency
• pseudoadrenoleukodystrophy see peroxisomal acyl-CoA oxidase deficiency
• pseudocholinesterase deficiency
• pseudoneonatal adrenoleukodystrophy see peroxisomal acyl-CoA oxidase deficiency
• psychosine lipidosis see Krabbe disease
• PWS see Prader-Willi syndrome
• pyroglutamic acidemia see glutathione synthetase deficiency
• pyroglutamic aciduria see glutathione synthetase deficiency
• pyrroline-5-carboxylate dehydrogenase deficiency see hyperprolinemia
• pyrroline carboxylate dehydrogenase deficiency see hyperprolinemia
• pyruvate dehydrogenase deficiency
• renal carnitine transport defect see primary carnitine deficiency
• S-adenosylhomocysteine hydrolase deficiency see hypermethioninemia
• saccharopine dehydrogenase deficiency disease see hyperlysinemia
• saccharopinuria see hyperlysinemia
• Sandhoff disease
• SANDO see ataxia neuropathy spectrum
• SBCADD see 2-methylbutyryl-CoA dehydrogenase deficiency
• SCAD deficiency see short-chain acyl-CoA dehydrogenase deficiency
• SCADH deficiency see short-chain acyl-CoA dehydrogenase deficiency
• SCAE see myoclonic epilepsy myopathy sensory ataxia
• SCHAD deficiency see 3-hydroxyacyl-CoA dehydrogenase deficiency
• Schindler disease
• SCID due to ADA deficiency see adenosine deaminase deficiency
• SCOT deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
• SDS see Shwachman-Diamond syndrome
• Seip syndrome see congenital generalized lipodystrophy
• sensory ataxia neuropathy dysarthria and ophthalmoplegia see ataxia neuropathy spectrum
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see adenosine deaminase deficiency
• severe combined immunodeficiency due to ADA deficiency see adenosine deaminase deficiency
• short/branched-chain acyl-CoA dehydrogenase deficiency see 2-methylbutyryl-CoA dehydrogenase deficiency
• short-chain acyl-CoA dehydrogenase deficiency
• short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
• Shwachman-Bodian-Diamond syndrome see Shwachman-Diamond syndrome
• Shwachman-Bodian syndrome see Shwachman-Diamond syndrome
• Shwachman-Diamond syndrome
• Shwachman syndrome see Shwachman-Diamond syndrome
• SI deficiency see congenital sucrase-isomaltase deficiency
• sialic acid storage disease
• sialuria
• sialuria, Finnish type see sialic acid storage disease
• sitosterolaemia see sitosterolemia
• sitosterolemia
• Sjögren-Larsson syndrome
• SLS see Sjögren-Larsson syndrome
• Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
• sphingomyelin/cholesterol lipidosis see Niemann-Pick disease
• sphingomyelin lipidosis see Niemann-Pick disease
• sphingomyelinase deficiency see Niemann-Pick disease
• spinocerebellar ataxia with epilepsy see myoclonic epilepsy myopathy sensory ataxia
• sprue see celiac disease
• SSADH deficiency see succinic semialdehyde dehydrogenase deficiency
• stale fish syndrome see trimethylaminuria
• Steely Hair Syndrome see Menkes syndrome
• steroid 18-hydroxylase deficiency see corticosterone methyloxidase deficiency
• steroid 18-oxidase deficiency see corticosterone methyloxidase deficiency
• straight-chain acyl-CoA oxidase deficiency see peroxisomal acyl-CoA oxidase deficiency
• succinic semialdehyde dehydrogenase deficiency
• succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinyl-CoA:3-oxoacid CoA transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinyl-CoA 3-oxoacid transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinyl-CoA:acetoacetate transferase deficiency see succinyl-CoA:3-ketoacid CoA transferase deficiency
• succinylcholine sensitivity see pseudocholinesterase deficiency
• succinylpurinemic autism see adenylosuccinate lyase deficiency
• sucrase-isomaltase deficiency see congenital sucrase-isomaltase deficiency
• suxamethonium sensitivity see pseudocholinesterase deficiency
• systemic carnitine deficiency see primary carnitine deficiency
• T1D see type 1 diabetes
• T2 deficiency see beta-ketothiolase deficiency
• Tarui disease see glycogen storage disease type VII
• Tay-Sachs disease
• Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
• TAZ defect see Barth syndrome
• TC deficiency see transcobalamin deficiency
• TC II deficiency see transcobalamin deficiency
• TCN2 deficiency see transcobalamin deficiency
• tetrahydrobiopterin deficiency
• TFP deficiency see mitochondrial trifunctional protein deficiency
• thiamine metabolism dysfunction syndrome 2 see biotin-thiamine-responsive basal ganglia disease
• thiamine-responsive encephalopathy see biotin-thiamine-responsive basal ganglia disease
• thiamine transporter-2 deficiency see biotin-thiamine-responsive basal ganglia disease
• THMD2 see biotin-thiamine-responsive basal ganglia disease
• Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
• TMAU see trimethylaminuria
• Total hexosaminidase deficiency see Sandhoff disease
• total lipodystrophy see congenital generalized lipodystrophy
• TPA deficiency see mitochondrial trifunctional protein deficiency
• TPI deficiency see triosephosphate isomerase deficiency
• TPID see triosephosphate isomerase deficiency
• transcobalamin deficiency
• transcortin deficiency see corticosteroid-binding globulin deficiency
• trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• trifunctional protein deficiency, type 2 see mitochondrial trifunctional protein deficiency
• Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
• triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
• trimethylaminuria
• triose phosphate isomerase deficiency see triosephosphate isomerase deficiency
• triosephosphate isomerase deficiency
• Triple H syndrome see ornithine translocase deficiency
• Troisier-Hanot-Chauffard syndrome see hereditary hemochromatosis
• TSD see Tay-Sachs disease
• type 1 diabetes
• type IV glycogenosis see glycogen storage disease type IV
• tyrosinaemia see tyrosinemia
• tyrosinemia
• ubiquinone-cytochrome c oxidoreductase deficiency see mitochondrial complex III deficiency
• UDP-galactose-4-epimerase deficiency disease see galactosemia
• UTP hexose-1-phosphate uridylyltransferase deficiency see galactosemia
• Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
• very long-chain acyl-CoA dehydrogenase deficiency
• Visser-Cost syndrome see corticosterone methyloxidase deficiency
• VLCAD-C see very long-chain acyl-CoA dehydrogenase deficiency
• VLCAD deficiency see very long-chain acyl-CoA dehydrogenase deficiency
• VLCAD-H see very long-chain acyl-CoA dehydrogenase deficiency
• von Gierke disease see glycogen storage disease type I
• Von Recklenhausen-Applebaum disease see hereditary hemochromatosis
• WD see Wilson disease
• Willi-Prader syndrome see Prader-Willi syndrome
• Wilson disease
• Wolfram syndrome
• Wolman disease
• X-linked copper deficiency see Menkes syndrome
• Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
• Zellweger-like syndrome see D-bifunctional protein deficiency