Congenital disorders of amino acid metabolism explained

Inborn errors of amino acid metabolism are inherited metabolic disorders that impair the synthesis and degradation of amino acids.^[1]

Types

• 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

• Cystinuria
• Dicarboxylic aminoaciduria
• Hartnup disease

Amino acid storage disorders

• Glutaric acidemia type 2

Notes and References

1. Web site: Demczko . Matt . Overview of Amino Acid Metabolism Disorders . Merck Manuals . Merck & Co . 2 December 2024.