Citrullinemia, Type II, Neonatal-Onset

Alternative Names

  • Citrullinemia, Type II, Neonatal-Onset, with or without Failure to Thrive and Dyslipidemia
  • Cholestasis, Neonatal Intrahepatic, Caused by Citrin Deficiency
  • NICCD
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

605814

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7q21.3

Description

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive metabolic disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. Most patients show spontaneous improvement by 1 year of age. However, some patients may have a progressive course with continued failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and some may develop chronic or fatal liver disease. [From OMIM]

Epidemiology in the Arab World

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