Congenital Disorders Of Amino Acid Metabolism

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Retrieved
2021-01-18
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Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.

Types

  • 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
  • Hypermethioninemia
  • Hyperlysinemias
  • Nonketotic hyperglycinemia
  • Propionic acidemia
  • Hyperprolinemia

Amino acid transport disorders

  • Cystinuria
  • Dicarboxylic aminoaciduria
  • Hartnup disease

Amino acid storage disorders

  • Glutaric acidemia type 2