Abstract：
Citrin deficiency is an autosomal recessive metabolic liver disease caused by mutations in the SLC25A13 gene. The disease typically presents with cholestasis, elevated liver enzymes, hyperammonemia, hypercitrullinemia, and fatty liver in young infants, resulting in a phenotype known as \"neonatal intrahepatic cholestasis caused by citrin deficiency\" (NICCD). The diagnosis relies on clinical manifestation, biochemical evidence of hypercitrullinemia, and identifying mutations in the SLC25A13 gene. Several common mutations have been found in patients of East Asian background. The mainstay treatment is nutritional therapy in early infancy utilizing a lactose-free and medium-chain triglyceride formula. This approach leads to the majority of patients recovering liver function by 1 year of age. Some patients may remain asymptomatic or undiagnosed, but a small proportion of cases can progress to cirrhosis and liver failure, necessitating liver transplantation. Recently, advancements in newborn screening methods have improved the age of diagnosis. Early diagnosis and timely management improve patient outcomes. Further studies are needed to elucidate the long-term follow-up of NICCD patients into adolescence and adulthood.
摘要：
Citrin缺乏症是由SLC25A13基因突变引起的常染色体隐性代谢肝病。这种疾病通常表现为胆汁淤积，肝酶升高，高氨血症,高瓜氨酸血症,和婴儿的脂肪肝，导致称为“由citrin缺乏症引起的新生儿肝内胆汁淤积症”（NICCD）的表型。诊断依赖于临床表现，高瓜氨酸血症的生化证据,并鉴定SLC25A13基因的突变。在东亚背景的患者中发现了几种常见的突变。主要治疗方法是在婴儿期早期使用无乳糖和中链甘油三酯配方进行营养治疗。这种方法导致大多数患者在1岁时恢复肝功能。一些患者可能仍然无症状或未确诊，但是一小部分病例可以进展为肝硬化和肝功能衰竭，需要肝移植。最近,新生儿筛查方法的进步提高了诊断年龄.早期诊断和及时管理可改善患者预后。需要进一步的研究来阐明NICCD患者进入青春期和成年期的长期随访。
