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Citrin缺陷病是由于基因SLC25A13表达异常引发的常染色体隐性遗传病。SLC25A13位于染色体7q21.3,其表达异常可导致2种年龄依赖性表型,在成人称为成年发作Ⅱ型瓜氨酸血症(CTLN2),在婴儿则称为肝内胆
Citrin deficiency is due to the gene SLC25A13 abnormal expression caused by autosomal recessive disease. SLC25A13 is located on chromosome 7q21.3 and its expression can lead to two age-dependent phenotypes. In adults, it is called adult onset type II citrullinemia (CTLN2) and in infants it is called intrahepatic