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ORPHA:247598Disease
Also called NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency
What it is
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.
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Signs and symptoms
Very common80–99%
15- Abnormal circulating lipid concentration
- Cholestasis
- Decreased circulating antibody level
- Elevated alpha-fetoprotein
- Elevated circulating alkaline phosphatase concentration
- Elevated gamma-glutamyltransferase level
- Elevated plasma citrulline
- Hyperbilirubinemia
- Hypergalactosemia
- Hypertriglyceridemia
- Hypoalbuminemia
- Increased circulating lactate dehydrogenase concentration
- Jaundice
- Lactic acidosis
- Prolonged prothrombin time
Common30–79%
12These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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