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Crigler-Najjar syndrome
rareCrigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
- Identifiers
- MONDO:0009044 Orphanet:205
- Also known as
- bilirubin UDP glucuronyl transferase deficiency · bilirubin uridinediphosphate glucuronosyltransferase deficiency · bilirubin-UGT deficiency · Crigler Najjar Syndrome · hereditary unconjugated hyperbilirubinemia
Subtypes
| Disease | Subtypes |
|---|---|
| Crigler-Najjar syndrome type 1 | |
| Crigler-Najjar syndrome type 2 |
Rare disease
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