amino acid metabolism diseases

Definition: Amino acid metabolism diseases are inborn anomalies of the metabolism of amino acids.

Amino acid metabolism diseases 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 diseases can be diagnosed for by analysis of the amino acid content of urine.

Types

 tyrosin metabolism anomalies

• oculocutaneous albinism
• alkaptonuria
• tyrosinemia

 phenylalanine metabolism anomalies

• phenylketonuria
• hyperphenylalaninemia with defective tetrahydrobiopterin metabolism

 aspartylglucosaminuria
 maple syrup urine disease (leucinosis)

 methionine metabolism anomalies

• homocystinuria

 trimethylaminuria
 Hartnup disease
 biotinidase deficiency
 ornithine carbamoyltransferase deficiency
 carbamoyl-phosphate synthase I deficiency disease
 citrullinemia
 hyperargininemia
 hyperhomocysteinemia
 hyperlysinemias
 nonketotic hyperglycinemia
 propionic acidemia
 hyperprolinemia

See also

 metabolic genetic diseases (inborn errors of metabolism)