Avdjieva-Tzavella D M, Ivanova M B, Todorov T P, Todorova A P, Panteleeva E I, Tincheva S S, Lazarova E A, Kathom H M, Yaneva P G, Tincheva R S
Genet Couns. 2014;25(3):271-6.
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2) in adults. NICCD presents in the first few weeks of life with cholestatic hepatitis syndrome, multiple aminoacidemia and hypergalactosemia. To date almost all reported patients were from East Asia and only few cases from Caucasian origin have been described. We report the first Bulgarian case of NICCD. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
Citrin缺乏症是一种由SLC25A13基因突变引起的常染色体隐性疾病，有三种表型：新生儿期由Citrin缺乏引起的肝内胆汁淤积症（NICCD）、大龄儿童中由Citrin缺乏引起的生长发育迟缓及血脂异常（FTTDCD）、成人II型瓜氨酸血症（CTLN2）中伴有神经精神症状的复发性高氨血症。NICCD在出生后的头几周表现为胆汁淤积性肝炎综合征、多种氨基酸血症和高半乳糖血症。迄今为止，几乎所有报道的患者都来自东亚，仅有少数白种人病例被描述。我们报告了保加利亚首例NICCD病例。SLC25A13基因的突变筛查发现了复合杂合突变c.1081C>T（p.R361*）和c.74C>A（p.A25E），这证实了NICCD的诊断。无义突变c.1081C>T（p.R361*）是新发现的。
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