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	Genetic Conditions: 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. - A - 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 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 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-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-mannosidase B deficiency see Alpha-mannosidosis Alpha-mannosidase deficiency see Alpha-mannosidosis Alpha-mannosidosis Alpha-methylacetoacetic aciduria see Beta-ketothiolase deficiency Alpha-N-acetylgalactosaminidase deficiency see Schindler disease Alpha-NAGA deficiency see Schindler disease AMD see Pompe disease 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 corporis diffusum-glycopeptiduria see Schindler disease Angiokeratoma diffuse see Fabry disease 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 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 - 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 - C - 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 Carnitine-acylcarnitine translocase deficiency Carnitine palmitoyltransferase 2 deficiency Carnitine palmitoyltransferase I 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 2 deficiency CPTII see carnitine palmitoyltransferase 2 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 - 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 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-coenzyme A lyase deficiency Deficiency of methionine adenosyltransferase see Hypermethioninemia Deficiency of methylcrotonoyl-CoA carboxylase see 3-methylcrotonyl-coenzyme A carboxylase deficiency Deoxyguanosine kinase deficiency DGUOK-related mitochondrial DNA depletion syndrome see deoxyguanosine kinase deficiency Diffuse Globoid Body Sclerosis see Krabbe disease Disaccharide intolerance I see Congenital sucrase-isomaltase deficiency DJS see Dubin-Johnson syndrome Dopa decarboxylase deficiency see Aromatic l-amino acid decarboxylase deficiency Dubin-Johnson syndrome - E - 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 - F - Fabry disease Familial hemochromatosis see Hemochromatosis Familial hyperlysinemia see Hyperlysinemia 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 FIGLU-uria see Glutamate formiminotransferase deficiency Fish malodor syndrome see Trimethylaminuria Fish odor syndrome see Trimethylaminuria FIVE see Ataxia with vitamin E deficiency Folling Disease see phenylketonuria 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 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 - G - 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 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 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 Glutamate formiminotransferase deficiency 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 Goldberg syndrome see Galactosialidosis GSD II see Pompe disease GSD2 see Pompe disease GTPS see GLUT1 deficiency syndrome Guanidinoacetate methyltransferase deficiency Gyrate atrophy of the choroid and retina - H - 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 HAL deficiency see histidinemia HC see Hemochromatosis Hematoporphyria see porphyria Hemochromatoses see Hemochromatosis Hemochromatosis Hepatic AGT deficiency see Primary hyperoxaluria Hepatic methionine adenosyltransferase deficiency see Hypermethioninemia Hepatocerebral mitochondrial DNA depletion syndrome see Deoxyguanosine kinase deficiency 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 HIS deficiency see Histidinemia Histidase deficiency see Histidinemia Histidine ammonia-lyase deficiency see Histidinemia Histidinemia HLAH see Hemochromatosis HLCS deficiency see Holocarboxylase synthetase deficiency HMG see 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency HOGA see Gyrate atrophy of the choroid and retina 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 Hyperbilirubinemia II see Dubin-Johnson syndrome 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 Hyperhistidinemia see Histidinemia 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 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 - I - 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 - J - Jaundice, Chronic Idiopathic see Dubin-Johnson syndrome - K - 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 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 - 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 Lysine alpha-ketoglutarate reductase deficiency disease see Hyperlysinemia Lysinuric protein intolerance Lysosomal acid lipase deficiency see 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 - 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 MERRF see myoclonic epilepsy with ragged-red fibers MET see Hypermethioninemia Metaphyseal chondrodysplasia, Shwachman type see Shwachman-Diamond syndrome 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 DNA depletion syndrome, hepatocerebral form see Deoxyguanosine kinase 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 2 deficiency 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 - 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 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 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 - O - OAT deficiency see Gyrate atrophy of the choroid and retina 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 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 5-oxoprolinemia see Glutathione synthetase deficiency 5-oxoprolinuria see Glutathione synthetase deficiency - P - 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 PPCA deficiency see Galactosialidosis 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 - Q - - R - Renal carnitine transport defect see Primary carnitine deficiency - S - S-adenosylhomocysteine hydrolase deficiency see Hypermethioninemia Saccharopine dehydrogenase deficiency disease see Hyperlysinemia 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 Schindler disease 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 - T - 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 - U - 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 - V - 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 - W - WD see Wilson disease Willi-Prader syndrome see Prader-Willi syndrome Wilson disease Wolman disease - X - X-linked copper deficiency see Menkes syndrome Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis - Y - - Z - The information in this page is primarily for reference and education. It is not intended to be a substitute for the advice of a physician. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional.