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Acute neonatal citrullinemia type I

Orpha number ORPHA247546
Synonym(s) Acute neonatal citrullinemia type 1
Citrullinémie type 1 néonatal aigu
Classic citrullinemia type 1
Classic citrullinemia type I
Prevalence -
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • E72.2
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Acute neonatal citrullinemia type 1 is a severe form of citrullinemia type 1 (see this term) characterized clinically by hyperammonemia, 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.


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Detailed information

Summary information
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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