Abstract
Citrin deficiency is a group of autosomal recessive genetic disorder including adult-onset type Ⅱ citrullinaemia (CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD).The gene SLC25A13 related to citrin deficiency is located on chromosome 7q21.3,which encodes a protein named citrin with function of liver aspartate/glutamate carrier.Mutations in SLC25A13 such as point mutation or deletion lead to citrin deficiency which appears racial differences.Many cases of citrin deficiency have been found in Japan.In other countries including China,Korea,Vietnam,United States and Czech,citrin deficiencies are also identified.In southern part of China there is a special high mutation carrier frequency.This review is about the discovery history of citrin deficiency,the structure and function of citrin,the symptoms and progresses in diagnosis methods of citrin deficiency. Key words: Citrin deficiency; CTLN2; NICCD
Published Version
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