Congenital disorders of amino acid metabolism

Updated on Nov 05, 2023

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Specialty endocrinology ICD-9-CM 270		ICD-10 E70-E72 MeSH D000592

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

Types include:

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

Amino acid transport disorders

Cystinuria

Dicarboxylic aminoaciduria

Hartnup disease

Glutaric acidemia type 2

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