Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Argininosuccinic aciduria

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


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.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Emergency guidelines
Clinical practice guidelines
Article for general public
Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.