Inborn errors of amino acid metabolism

From Wikipedia, the free encyclopedia

Inborn errors of amino acid metabolism Classification and external resources
ICD-10	E70.-E72.
ICD-9	270
MeSH	D000592

Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.

An example is maple syrup urine disease.

[edit] External links

• http://www.med.unibs.it/~marchesi/aminoaciddiseases.html

v • d • e Inborn errors of amino acid metabolism (E70-72, 270) K Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency G→pyruvate Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency G→alpha-ketoglutarate Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria G→succinyl-CoA Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia G→fumarate Phenylalanine/tyrosine Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia (Hawkinsinuria) Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency G→oxaloacetate Urea cycle/Hyperammonemia (arginine, aspartate) N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia Transport Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome) Tyrosine→Melanin Albinism: Ocular albinism - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome Glycine→Creatine GAMT deficiency Other Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates