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.

• 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

Amino acid transport disorders

• Cystinuria
• Dicarboxylic aminoaciduria
• Phenylketonuria

Amino acid storage disorders

• Glutaric acidemia type 2