Crigler-Najjar Syndrome - current state of knowledge, overview of etiology, symptoms, diagnosis and treatment methods

• Main Authors: Jakub Wawrzkowicz (Author), Monika Korga (Author), Paweł Pawlik (Author), Przemysław Zaroda (Author), Paweł Dąda (Author), Patrycja Niewinna (Author), Michał Żuchowski (Author), Dominika Mańdziuk (Author), Klaudia Kołodziej (Author), Wojciech Kołodziej (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Crigler-Najjar syndrome is an autosomal recessive genetic disorder characterized by a mutation in the UGT1A1 gene, resulting in a complete deficiency of uridine diphosphate glucuronosyltransferase enzyme in hepatocytes. This leads to jaundice due to elevated levels of indirect bilirubin in the blood...