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Citrullinemia

ORPHA187
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E72.2
OMIM -
UMLS
  • C0175683
MeSH
  • D020159
MedDRA -

Summary

Citrullinemia is an autosomal recessively inherited disorder of urea cycle metabolism and ammonia detoxification (see this term) characterized by elevated concentrations of serum citrulline and ammonia that presents with a large range of manifestations including neonatal hyperammonemic encephalopathy with lethargy, seizures and coma, hepatic dysfunction in neonates, episodes of hyperammonemia and neuropsychiatric symptoms in children or adults, or, in some cases, no symptoms at all. Citrullinemia is divided into two main groups: citrullinemia type I (comprised of acute neonatal citrullinemia type I and adult-onset citrullinemia type I) and citrin deficiency (comprised of citrullinemia type II and neonatal intrahepatic cholestasis due to citrin deficiency) (see these terms).


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Detailed 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)
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