Neonatal intrahepatic cholestasis due to citrin deficiency

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Neonatal intrahepatic cholestasis due to citrin deficiency

Synonyms: NICCD | Neonatal intrahepatic cholestasis caused by citrin deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Neonatal intrahepatic cholestasis due to citrin deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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