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Argininosuccinic aciduria

Disease definition

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ORPHA:23

  • Synonym(s):
    • ASA deficiency
    • ASL deficiency
    • Argininosuccinase deficiency
    • Argininosuccinatelyase deficiency
    • Argininosuccinic acid lyase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, All ages
  • ICD-10: E72.2
  • OMIM: 207900
  • UMLS: C0268547
  • MeSH: D056807
  • GARD: 5843
  • MedDRA: 10058299

Additional information

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