Crigler-Najjar syndrome type 2
Name: |
Crigler-Najjar syndrome type 2
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Description: |
A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.
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ORPHAcode: |
79235
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Synonyms: |
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
Bilirubin-UGT deficiency type 2
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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