Congenital disorders of amino acid metabolism

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

Types

 * Alkaptonuria
 * Aspartylglucosaminuria
 * Branched-chain keto acid dehydrogenase kinase deficiency
 * 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