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
- 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
- Cystinuria
- Dicarboxylic aminoaciduria
- Hartnup disease
Amino acid storage disorders
- Glutaric acidemia type 2
