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Citrullinemia type I

Synonym(s) ASS deficiency
Argininosuccinate synthase deficiency
Argininosuccinate synthetase deficiency
Argininosuccinic acid synthase deficiency
Argininosuccinic acid synthetase deficiency
Citrullinemia type 1
Classic citrullinemia
Prevalence 1-9 / 100 000
Inheritance Autosomal recessive
Age of onset All ages
  • E72.2
MeSH -
  • 10058298


Disease definition

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type I, see this term).

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