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Acute neonatal citrullinemia type I

Disease definition

Acute neonatal citrullinemia type I is a severe form of citrullinemia type 1 (see this term) 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.

ORPHA:247546

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

Additional information

Further information on this disease

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