Puneet Varma (Editor)

Congenital disorders of amino acid metabolism

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Specialty
  
endocrinology

ICD-9-CM
  
270

ICD-10
  
E70-E72

MeSH
  
D000592

Congenital disorders of amino acid metabolism

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

Contents

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

    • Amino acid storage disorders

  • Glutaric acidemia type 2

    • References

    Congenital disorders of amino acid metabolism Wikipedia
    (Text) CC BY-SA


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