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Citrullinemia type I

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).

ORPHA:247525

Classification level: Disorder
  • Synonym(s):
    • ASS deficiency
    • Argininosuccinate synthase deficiency
    • Argininosuccinate synthetase deficiency
    • Argininosuccinic acid synthase deficiency
    • Argininosuccinic acid synthetase deficiency
    • CTLN1
    • Citrullinemia type 1
    • Classic citrullinemia
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E72.2
  • OMIM: 215700
  • UMLS: C4721769
  • MeSH: -
  • GARD: -
  • MedDRA: 10058298

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012) Greek (2012, pdf)

Detailed information

General public

Guidelines

Disease review articles

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

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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.