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Citrullinemia type I

Orpha number ORPHA247525
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
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA
  • 10058298

Summary

Citrullinemia type 1 is a rare autosomal recessive urea cycle defect characterized clinically by hyperammonemia, progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type 1, see this term) and by variable hyperammonemia in the later-onset form (Adult-onset citrullinemia type 1, see this term).


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Detailed information

Summary information
Emergency guidelines
  • EN (2012,pdf)
Clinical practice guidelines
  • EN (2012)
Article for general public
  • NL (2011,pdf)
  • ES (2011,pdf)
  • FR (2011,pdf)
  • IT (2011,pdf)
  • PT (2011,pdf)
  • DE (2011,pdf)
  • EN (2011,pdf)
Clinical genetics review
  • EN (2014)
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