List of amino acid metabolism disorders
- List of amino acid metabolism disorders
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.
*Anomalies of Tyrosine metabolism
**Oculocutaneous albinism
**Tyrosinemia
**Alkaptonuria
*Anomalies of Phenylalanine metabolism
**Phenylketonuria
**Hyperphenylalaninemia with defective tetrahydrobiopterin metabolism
*Anomalies of branched-chain amino acids metabolism (Leucine, Isoleucine, Valine)
**Maple syrup urine disease (Leucinosis)
*Anomalies of methionine metabolism
**Homocystinuria
*Anomalies of glycine metabolism
**Nonketotic hyperglycinemia
*Anomalies of tryptophan metabolism
**Hartnup disease
*Biotinidase deficiency
*Ornithine carbamoyltransferase deficiency
*Carbamoyl-phosphate synthase I deficiency disease
*Citrullinemia
*Hyperargininemia
*Hyperhomocysteinemia
*Hyperlysinemias
*Hyperprolinemia
Amino acid transport disorders
*Cystinuria
*Dicarboxylic aminoaciduria
*Phenylketonuria
Amino acid storage disorders
*Glutaric acidemia type 2
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