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Neonatal intrahepatic cholestasis due to citrin deficiency

Disease definition

A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.

ORPHA:247598

Classification level: Disorder
  • Synonym(s):
    • NICCD
    • Neonatal intrahepatic cholestasis caused by citrin deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.2
  • OMIM: 605814
  • UMLS: C1853942
  • MeSH: -
  • GARD: 10214
  • MedDRA: -
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