Orphanet: Acute neonatal citrullinemia type I

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Acute neonatal citrullinemia type I

Disease definition

A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.


Classification level: Subtype of disorder
  • Synonym(s):
    • Acute neonatal citrullinemia type 1
    • Early-onset citrullinemia type 1
    • Early-onset citrullinemia type I
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.2
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public


Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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