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://www.orphadata.org. Data version April 2026
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Neonatal intrahepatic cholestasis due to citrin deficiency?
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Advocacy Organizations
Citrin Foundation
Citrin Foundation is a research-driven, non-profit organization set up to tackle citrin deficiency. Our goal is to ultimately find effective treatments and a cure for the condition. We fund research projects to better understand the condition and develop new therapies. We also provide support to citrin deficiency patients and their families globally.
Global Liver Institute
To improve the lives of individuals and families impacted by liver disease through promoting innovation, encouraging collaboration, and scaling optimal approaches to help eradicate liver diseases.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
flok Health (formerly National PKU News)
National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.