Congenital, Hereditary, and Neonatal Diseases and Abnormalities: News and Research on Hyperbilirubinemia, Hereditary

MeSH tree: C16.320.565.300

Dubin-Johnson Syndrome in twins linked to novel genetic mutations

Researchers in China and Italy have made a significant breakthrough in understanding Dubin-Johnson syndrome (DJS), a rare inherited liver disorder. The team identified specific genetic mutations responsible for DJS in a pair ...

Apr 9, 2024

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Trial demonstrates efficacy of gene therapy in patients suffering from Crigler-Najjar syndrome, a rare liver disease

Crigler-Najjar syndrome is characterized by hyperbilirubinemia. If it is not treated quickly, the build-up of bilirubin, due to a deficiency in the enzyme UGT1A1 which is responsible for metabolizing it into a substance that ...

Aug 17, 2023

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Destabilization of atherosclerotic plaque by bilirubin deficiency

Atherosclerosis is the main underlying cause of cardiovascular disease (CVD). In this process, plaque made of fat, cholesterol, calcium, and other substances builds up on the artery walls.

Apr 10, 2023

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