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.

• AADC deficiency see aromatic l-amino acid decarboxylase deficiency
• AB variant see GM2-gangliosidosis, AB variant
• abetalipoproteinemia
• ACADM deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
• ACADS deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• ACADVL see very long-chain acyl-coenzyme A dehydrogenase deficiency
• acanthocytosis see abetalipoproteinemia
• Acid ceramidase deficiency see Farber lipogranulomatosis
• Acid lipase deficiency see Wolman disease
• Acid Maltase Deficiency Disease 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-coenzyme A dehydrogenase deficiency
• ADA deficiency see adenosine deaminase deficiency
• ADA-SCID see adenosine deaminase deficiency
• adenosine deaminase deficiency
• AGA deficiency see aspartylglucosaminuria
• Aglucosidase alfa see Pompe disease
• AKU see alkaptonuria
• Alcaptonuria see alkaptonuria
• alkaptonuria
• alpha-1,4-Glucosidase deficiency see Pompe disease
• 2-alpha-methyl-3-hydroxybutyricacidemia see beta-ketothiolase deficiency
• 3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency see 3-hydroxyacyl-coenzyme A 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
• alpha-D-mannosidosis see alpha-mannosidosis
• Alpha-fucosidase deficiency see fucosidosis
• Alpha-galactosidase A deficiency see Fabry disease
• alpha-mannosidase B deficiency see alpha-mannosidosis
• alpha-mannosidase deficiency see alpha-mannosidosis
• alpha-mannosidosis
• alpha-Methylacetoacetic aciduria see beta-ketothiolase deficiency
• Aminoacylase 2 deficiency see Canavan disease
• 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 diffuse see Fabry disease
• Apolipoprotein B deficiency see abetalipoproteinemia
• 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
• Asp deficiency see Canavan disease
• Aspa deficiency see Canavan disease
• Aspartoacylase deficiency see Canavan disease
• aspartylglucosamidase deficiency see aspartylglucosaminuria
• Aspartylglucosaminidase deficiency see aspartylglucosaminuria
• aspartylglucosaminuria
• ataxia with vitamin E deficiency
• AVED see ataxia with vitamin E deficiency
• B variant GM2 gangliosidosis see Tay-Sachs disease
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BCKD deficiency see maple syrup urine disease
• Berardinelli-Seip congenital lipodystrophy
• Beta-hexosaminidase-beta-subunit deficiency see Sandhoff disease
• beta-ketothiolase deficiency
• beta-mannosidase deficiency see beta-mannosidosis
• beta-mannosidosis
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• BH4 Deficiency see tetrahydrobiopterin deficiency
• BIOT see biotinidase deficiency
• biotinidase deficiency
• BKT see beta-ketothiolase deficiency
• BMCC deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• Branched-chain alpha-keto acid dehydrogenase deficiency see maple syrup urine disease
• Branched-Chain Ketoaciduria see maple syrup urine disease
• Bronze Diabetes see hemochromatosis
• Bronzed cirrhosis see hemochromatosis
• Brunzell syndrome (with bone cysts) see Berardinelli-Seip congenital lipodystrophy
• BSCL see Berardinelli-Seip congenital lipodystrophy
• BTD deficiency see biotinidase deficiency
• Burger-Grutz syndrome see familial lipoprotein lipase 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 intolerance see glucose-galactose malabsorption
• Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
• cardiomegalia glycogenica diffusa see Pompe disease
• 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
• CDS see Chanarin-Dorfman syndrome
• Ceramidase deficiency see Farber lipogranulomatosis
• Ceramide trihexosidase deficiency see Fabry disease
• Cerebroside Lipidosis Syndrome see Gaucher disease
• cerebrotendinous xanthomatosis
• CESD see cholesteryl ester storage disease
• Chanarin-Dorfman syndrome
• Cholesterol Ester Storage Disease see cholesteryl ester storage disease
• cholesteryl ester storage disease
• chylomicron retention disease
• CIT see citrullinemia
• citrullinemia
• Classic Galactosemia see galactosemia
• CMRD see chylomicron retention disease
• Cohen syndrome
• complex carbohydrate intolerance see glucose-galactose malabsorption
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
• Congenital Lipomatosis of Pancreas see Shwachman-Diamond syndrome
• Congenital lysinuria see lysinuric protein intolerance
• congenital sucrase-isomaltase deficiency
• Copper storage disease see Wilson disease
• Copper transport disease see Menkes syndrome
• CPT deficiency, hepatic, type I see carnitine palmitoyltransferase I deficiency
• CPT I deficiency see carnitine palmitoyltransferase I deficiency
• CPT2 see carnitine palmitoyltransferase II deficiency
• CPTII see carnitine palmitoyltransferase II deficiency
• Creatine deficiency, cerebral see guanidinoacetate methyltransferase deficiency
• creatine deficiency syndrome due to GAMT deficiency see guanidinoacetate methyltransferase deficiency
• CSID see congenital sucrase-isomaltase deficiency
• CTX see cerebrotendinous xanthomatosis
• CUD see primary carnitine deficiency
• Cystine storage disease see cystinosis
• Cystinoses see cystinosis
• cystinosis
• D-glycerate dehydrogenase deficiency see primary hyperoxaluria
• DDC deficiency see aromatic l-amino acid decarboxylase deficiency
• De Vivo disease see GLUT1 deficiency syndrome
• Deficiency Disease, Phenylalanine Hydroxylase see phenylketonuria
• Deficiency of alkaline phosphatase see hypophosphatasia
• Deficiency of alpha-glucosidase see Pompe disease
• 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-coenzyme A lyase deficiency
• Deficiency of lysosomal alpha-glucosidase see Pompe disease
• Deficiency of methionine adenosyltransferase see hypermethioninemia
• Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• Diffuse Globoid Body Sclerosis see Krabbe disease
• disaccharide intolerance I see congenital sucrase-isomaltase deficiency
• dopa decarboxylase deficiency see aromatic l-amino acid decarboxylase 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
• 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
• Familial Hemochromatosis see hemochromatosis
• Familial hypobetalipoproteinemia see abetalipoproteinemia
• familial isolated vitamin E deficiency see ataxia with vitamin E deficiency
• familial lipoprotein lipase deficiency
• Familial Xanthomatosis see Wolman disease
• Farber lipogranulomatosis
• Fish malodor syndrome see trimethylaminuria
• Fish odor syndrome see trimethylaminuria
• FIVE see ataxia with vitamin E deficiency
• Folling Disease see phenylketonuria
• 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
• Fucosidase deficiency see fucosidosis
• fucosidosis
• fumarase deficiency
• fumarate hydratase deficiency see fumarase deficiency
• fumaric aciduria see fumarase deficiency
• 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
• Galactosylceramidase Deficiency Disease see Krabbe disease
• Galactosylceramide lipidosis see Krabbe disease
• galactosylcerebrosidase deficiency see Krabbe disease
• galactosylsphingosine lipidosis see Krabbe disease
• GALC deficiency see Krabbe disease
• GALT Deficiency see galactosemia
• Gamma-hydroxybutyric acidemia see succinic semialdehyde dehydrogenase deficiency
• gamma-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
• GAMT deficiency see guanidinoacetate methyltransferase deficiency
• Gaucher disease
• GCL see Krabbe disease
• GD see Gaucher disease
• Generalized Glycogenosis, Cardiac Form see Pompe disease
• generalized lipodystrophy see Berardinelli-Seip congenital lipodystrophy
• genetic hemochromatosis see 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 dehydrogenase deficiency
• 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
• GLUT1 deficiency syndrome
• glutaric acidemia type I
• glutaric acidemia type II
• Glutaryl-CoA dehydrogenase deficiency see glutaric acidemia type I
• glutathione synthetase deficiency
• glyceric aciduria see primary hyperoxaluria
• glycine encephalopathy
• glycine N-methyltransferase deficiency see hypermethioninemia
• Glycogen Storage Disease Type II see Pompe disease
• 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
• GSD II see Pompe disease
• GTPS see GLUT1 deficiency syndrome
• guanidinoacetate methyltransferase deficiency
• 3HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• HAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• HADH deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• HADHSC deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Haemochromatosis see hemochromatosis
• HC see hemochromatosis
• Hematoporphyria see porphyria
• Hemochromatoses see hemochromatosis
• hemochromatosis
• hepatic AGT deficiency see primary hyperoxaluria
• Hepatic methionine adenosyltransferase deficiency see hypermethioninemia
• Hepatolenticular degeneration syndrome see Wilson disease
• Hereditary dystopic lipidosis see Fabry disease
• Hereditary Tyrosinemias see tyrosinemia
• 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
• 2-HGA see 2-hydroxyglutaric aciduria
• HGPS see Hutchinson-Gilford progeria syndrome
• HH see hemochromatosis
• HHH syndrome see ornithine translocase deficiency
• HLAH see hemochromatosis
• HLCS deficiency see holocarboxylase synthetase deficiency
• HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• holocarboxylase synthetase deficiency
• homocystinuria
• Homogentisic acid oxidase deficiency see alkaptonuria
• Homogentisic acidura see alkaptonuria
• HP1 see primary hyperoxaluria
• HP2 see primary hyperoxaluria
• Hutchinson-Gilford progeria syndrome
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• 4-hydroxybutyric aciduria see succinic semialdehyde dehydrogenase deficiency
• 4-hydroxybutyricaciduria see succinic semialdehyde dehydrogenase deficiency
• 2-hydroxyglutaric aciduria
• Hydroxymethylglutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• Hyperargininemia see arginase deficiency
• hypercholesterolemia
• Hyperchylomicronemia, Familial see familial lipoprotein lipase deficiency
• Hyperdibasic aminoaciduria see lysinuric protein intolerance
• Hyperglycinemia, Nonketotic see glycine encephalopathy
• hyperglycinemia with ketoacidosis and leukopenia see propionic acidemia
• Hyperlipoproteinemia Type I see familial lipoprotein lipase deficiency
• hypermethioninemia
• hyperornithinemia-hyperammonemia-homocitrullinemia syndrome see ornithine translocase deficiency
• hyperornithinemia-hyperammonemia-homocitrullinuria syndrome see ornithine translocase deficiency
• Hyperoxaluria, Primary see primary hyperoxaluria
• Hyperphenylalaninemia caused by a defect in biopterin metabolism see tetrahydrobiopterin deficiency
• Hyperphenylalaninemia, Non-Phenylketonuric see tetrahydrobiopterin deficiency
• hyperprolinemia
• Hypertyrosinemia see tyrosinemia
• hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells see chylomicron retention disease
• Hypocupremia, Congenital see Menkes syndrome
• hypophosphatasia
• Hypotonia, obesity, and prominent incisors see Cohen syndrome
• IBD deficiency see isobutyryl-coenzyme A dehydrogenase deficiency
• Ichthyotic neutral lipid storage disease see Chanarin-Dorfman syndrome
• Infantile Multiple Carboxylase Deficiency see holocarboxylase synthetase deficiency
• Iron storage disorder see hemochromatosis
• isobutyryl-CoA dehydrogenase deficiency see isobutyryl-coenzyme A dehydrogenase deficiency
• isobutyryl-coenzyme A dehydrogenase deficiency
• isovaleric acidemia
• Isovaleryl-CoA dehydrogenase deficiency see isovaleric acidemia
• IVA see isovaleric acidemia
• IVD deficiency see isovaleric acidemia
• Kerasin histiocytosis see Gaucher disease
• Kerasin lipoidosis see Gaucher disease
• Kerasin thesaurismosis see Gaucher disease
• Ketoacidemia see maple syrup urine disease
• 3-Ketothiolase deficiency see beta-ketothiolase 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-coenzyme A dehydrogenase deficiency
• LAL deficiency see Wolman disease
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• LCHAD deficiency see long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Leukodystrophy, spongiform see Canavan disease
• LIPA deficiency see Wolman disease
• Lipase D deficiency see familial lipoprotein lipase deficiency
• LIPD deficiency see familial lipoprotein lipase deficiency
• lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• lipid transport defect of intestine see chylomicron retention disease
• lipodystrophy, congenital generalized see Berardinelli-Seip congenital lipodystrophy
• 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
• long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• LPI see lysinuric protein intolerance
• lysinuric protein intolerance
• Lysosomal acid lipase deficiency see Wolman disease
• Lysosomal alpha-1,4-glucosidase deficiency see Pompe 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
• 2M3HBA see beta-ketothiolase deficiency
• 3MCC see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• M/SCHAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• MAD see glutaric acidemia type II
• Malonic aciduria see malonyl-coenzyme A decarboxylase deficiency
• malonyl-CoA decarboxylase deficiency see malonyl-coenzyme A decarboxylase deficiency
• malonyl-coenzyme A decarboxylase deficiency
• mannosidosis see alpha-mannosidosis
• maple syrup urine disease
• MAT deficiency see beta-ketothiolase deficiency; hypermethioninemia
• 2-MBADD see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• 2-MBCD deficiency see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• 2-MBG see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• MCAD deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
• MCADD see medium-chain acyl-coenzyme A dehydrogenase deficiency
• MCADH deficiency see medium-chain acyl-coenzyme A dehydrogenase deficiency
• 3-MCC see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• MCC deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• MCD deficiency see malonyl-coenzyme A decarboxylase deficiency
• medium-chain acyl-coenzyme A dehydrogenase deficiency
• MELAS see mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• Menkea syndrome see Menkes syndrome
• Menkes syndrome
• MEPOP see mitochondrial neurogastrointestinal encephalopathy disease
• MET see hypermethioninemia
• Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome
• 2-methyl 3-hydroxy butyric aciduria see beta-ketothiolase deficiency
• 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• 2-methylbutyryl glycinuria see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• 3-methylcrotonyl-coenzyme A carboxylase deficiency
• Methylcrotonyl-CoA carboxylase deficiency see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• 3-methylcrotonylglycinuria see 3-methylcrotonyl-coenzyme A carboxylase deficiency
• 3-Methylhydroxybutyric acidemia see beta-ketothiolase deficiency
• methylmalonic acidemia
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated see beta-ketothiolase deficiency
• Mitochondrial acetoacetyl-CoA thiolase deficiency see beta-ketothiolase deficiency
• mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes
• mitochondrial neurogastrointestinal encephalopathy disease
• mitochondrial trifunctional protein deficiency
• MK see Menkes syndrome
• MMA see methylmalonic acidemia
• 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
• Muscle form of carnitine palmitoyltransferase deficiency see carnitine palmitoyltransferase II deficiency
• 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
• NAGS deficiency see N-acetylglutamate synthase deficiency
• NANA storage disease see sialic acid storage disease
• NARP see neuropathy, ataxia, and retinitis pigmentosa
• neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
• neuropathy, ataxia, and retinitis pigmentosa
• neutral lipid storage disease with ichthyosis see Chanarin-Dorfman syndrome
• neutral lipid storage disease with myopathy
• 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
• obesity-hypotonia syndrome see Cohen syndrome
• Oculogastrointestinal muscular dystrophy see mitochondrial neurogastrointestinal encephalopathy disease
• OGIMD see mitochondrial neurogastrointestinal encephalopathy disease
• 3-OH 3-CH3 glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• 3-OH 3-methyl glutaric aciduria see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
• ornithine transcarbamylase deficiency
• ornithine translocase deficiency
• Oxalosis see primary hyperoxaluria
• Oxaluria, Primary see primary hyperoxaluria
• 5-oxoprolinemia see glutathione synthetase deficiency
• 5-oxoprolinuria see glutathione synthetase deficiency
• PAH deficiency see phenylketonuria
• PCC deficiency see propionic acidemia
• Pepper syndrome see Cohen syndrome
• peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
• Phenylalanine Hydroxylase Deficiency Disease see phenylketonuria
• phenylketonuria
• Phosphoethanolaminuria see hypophosphatasia
• Pigmentary cirrhosis see hemochromatosis
• PKU see phenylketonuria
• POLIP see mitochondrial neurogastrointestinal encephalopathy disease
• Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction see mitochondrial neurogastrointestinal encephalopathy disease
• Pompe disease
• porphyria
• porphyrin disorder see porphyria
• Prader-Labhart-Willi syndrome see Prader-Willi syndrome
• Prader-Willi syndrome
• primary carnitine deficiency
• Primary Hemochromatosis see hemochromatosis
• primary hyperoxaluria
• Progeria see Hutchinson-Gilford progeria syndrome
• proline oxidase deficiency see hyperprolinemia
• prolinemia see hyperprolinemia
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• PROP see propionic acidemia
• propionic acidemia
• 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
• Renal carnitine transport defect see primary carnitine deficiency
• S-adenosylhomocysteine hydrolase deficiency see hypermethioninemia
• Sandhoff disease
• SBCADD see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• SCAD deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• SCADH deficiency see short-chain acyl-coenzyme A dehydrogenase deficiency
• SCHAD deficiency see 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• SCID due to ADA deficiency see adenosine deaminase deficiency
• SDS see Shwachman-Diamond syndrome
• Seip syndrome see Berardinelli-Seip congenital lipodystrophy
• severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency see adenosine deaminase deficiency
• short/branched-chain acyl-CoA dehydrogenase deficiency see 2-methylbutyryl-coenzyme A dehydrogenase deficiency
• short-chain acyl-coenzyme A dehydrogenase deficiency
• 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
• Sphingolipidosis, Tay-Sachs see Tay-Sachs disease
• Spongy degeneration of central nervous system see Canavan disease
• Spongy degeneration of the brain see Canavan disease
• Spongy degeneration of white matter in infancy see Canavan disease
• SSADH deficiency see succinic semialdehyde dehydrogenase deficiency
• Stale fish syndrome see trimethylaminuria
• Steely Hair Syndrome see Menkes syndrome
• succinic semialdehyde dehydrogenase deficiency
• Systemic carnitine deficiency see primary carnitine deficiency
• T2 deficiency see beta-ketothiolase deficiency
• Tay-Sachs disease
• Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
• tetrahydrobiopterin deficiency
• TFP deficiency see mitochondrial trifunctional protein deficiency
• Thymidine phosphorylase deficiency see mitochondrial neurogastrointestinal encephalopathy disease
• TMAU see trimethylaminuria
• Total hexosaminidase deficiency see Sandhoff disease
• total lipodystrophy see Berardinelli-Seip congenital lipodystrophy
• TPA deficiency see mitochondrial trifunctional protein deficiency
• trifunctional protein deficiency, type 1 see long-chain 3-hydroxyacyl-coenzyme A 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
• Triple H syndrome see ornithine translocase deficiency
• Troisier-Hanot-Chauffard syndrome see hemochromatosis
• TSD see Tay-Sachs disease
• tyrosinemia
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• Van Bogaert-Bertrand syndrome see Canavan disease
• Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
• very long-chain acyl-coenzyme A dehydrogenase deficiency
• Vitamin E Deficiency see ataxia with vitamin E deficiency
• VLCAD-C see very long-chain acyl-coenzyme A dehydrogenase deficiency
• VLCAD deficiency see very long-chain acyl-coenzyme A dehydrogenase deficiency
• VLCAD-H see very long-chain acyl-coenzyme A dehydrogenase deficiency
• Von Bogaert-Bertrand disease see Canavan disease
• Von Recklenhausen-Applebaum disease see hemochromatosis
• WD see Wilson disease
• Wilson disease
• Wolman disease
• X-linked copper deficiency see Menkes syndrome
• Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis