Congenital disorders of amino acid metabolism
(Redirected from List of amino acid metabolism disorders)
Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.
Congenital disorders of amino acid metabolism | |
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The general structure of an α-amino acid, with the amino group on the left and the carboxyl group on the right | |
Specialty | Endocrinology |
Types edit
- 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 edit
Amino acid storage disorders edit
References edit
External links edit