Congenital disorders of amino acid metabolism

Congenital disorders of amino acid metabolism
The general structure of an α-amino acid, with the amino group on the left and the carboxyl group on the right.

Inborn errors of amino acid metabolism are metabolic disorders which impair the synthesis and degradation of amino acids.

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

References

External links

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