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Argininosuccinic aciduria

ORPHA23
Synonym(s) Argininosuccinase deficiency
Prevalence 1-9 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
All ages
ICD-10
  • E72.2
OMIM
UMLS
  • C0268547
MeSH
  • D056807
MedDRA
  • 10058299

Summary

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, and that can lead to coma and death, or a late onset form that manifests with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities.


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Detailed information

Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2012)
Article for general public
  • NL (2011,pdf)
  • ES (2011,pdf)
  • FR (2011,pdf)
  • IT (2011,pdf)
  • PT (2011,pdf)
  • DE (2011,pdf)
  • EN (2013)
Clinical genetics review
  • EN (2012)
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