Crigler-Najjar syndrome type 2

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Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 | Bilirubin-UGT deficiency type 2

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.

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 June 2024

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Crigler-Najjar syndrome type 2?

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Advocacy Organizations

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.

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Clinical Trials

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