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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: DisorderA summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)
Detailed information
General public
- Article for general public
- Czech (2011, pdf) - EIMD
- Deutsch (2011, pdf) - EIMD
- English (2011, pdf) - EIMD
- Español (2011, pdf) - EIMD
- Suomi (2011, pdf) - EIMD
- Français (2011, pdf) - EIMD
- Hrvatski (2011, pdf) - EIMD
- Italiano (2011, pdf) - EIMD
- Nederlands (2011, pdf) - EIMD
- Polski (2011, pdf) - EIMD
- Português (2011, pdf) - EIMD
- Svenska (2011, pdf) - EIMD
- Türkçe (2011, pdf) - EIMD
- Urdu (2011, pdf) - EIMD
Guidelines
- Clinical practice guidelines
- Deutsch (2012) - AWMF
- Français (2021) - PNDS
Disease review articles
- Clinical genetics review
- English (2017) - GeneReviews
Genetic Testing
- Guidance for genetic testing
- Français (2015, pdf) - ANPGM


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.