Liver Disease due to Inborn Errors of Metabolism
Автор: Mount Sinai Genetics and Genomic Sciences
Загружено: 2021-02-17
Просмотров: 1814
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Liver Disease due to Inborn Errors of Metabolism: Emerging Phenotypes, Diagnostic Approaches and Novel therapies in the era of Genomic and Precision Medicine
Inherited liver disorders are metabolic and genetic defects that result in early, chronic liver damage. Many are due to an inherited defect of an enzyme/transport protein resulting in abnormality of a metabolic pathway. Errors of energy metabolism due to primary mitochondrial defects are also an important cause of severe liver dysfunction especially in children. While most are individually rare, the collective prevalence of these disorders appears to be higher, and they are increasingly recognized thanks to availability of genetic testing. Early diagnosis helps to reduce invasive and expensive testing, streamlines therapy and facilitates genetic counseling where indicated. In this webinar, we'll use illustrative cases to review the pathophysiology of such diseases and the diagnostic algorithms, focusing on the role of metabolic testing and molecular genetics.
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