Abstract
Citrin deficiency is a kind of genetic metabolic disorder caused by mutations of SLC25A13 gene.With the rapid growth of molecular biology technology, the SLC25A13 gene mutation spectrum is expanding.The patients of neonatal intrahepatic cholestasis caused by citrin deficiency represent multiple impaired liver function and abnormal biochemical indicators.The mechanism is not clear until now and final diagnosis depends on gene detection.We introduce the progress from molecular genetics, pathogenesis, clinical manifestation, multiple diagnostic techniques and treatment of the disease. Key words: Citrin deficiency; Neonatal intrahepatic cholestasis; SLC25A13 gene
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