List of amino acid metabolism disorders

From Wikipedia, the free encyclopedia

Several genetic disorders cause errors in amino acid metabolism. Amino acid metabolism disorders result from defects either in the synthesis of or the breakdown of amino acids or in the body's ability to get the amino acids into cells. These disrders can be screened for by analysis of the amino acid content of urine. This screen is known as aminoaciduria.

• Alkaptonuria
• Aspartylglucosaminuria
• Methylmalonic acidemia
• Maple syrup urine disease
• Homocystinuria
• Tyrosinemia
• Trimethylaminuria
• Hartnup disease
• Biotinidase deficiency
• Ornithine carbamoyltransferase deficiency
• Carbamoyl-phosphate synthase I deficiency disease
• Citrullinemia
• Hyperargininemia
• Hyperhomocysteinemia
• Hyperlysinemias
• Nonketotic hyperglycinemia
• Propionic acidemia
• Hyperprolinemia

[edit] Amino acid transport disorders

• Cystinuria
• Dicarboxylic aminoaciduria
• Phenylketonuria

[edit] Amino acid storage disorders

• Glutaric acidemia type 2

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: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia 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