复合杂合度
胆汁淤积
瓜氨酸血症
基因型
胃肠病学
瓜氨酸
内科学
突变
医学
酪氨酸血症
基因突变
遗传分析
基因
遗传学
生物
生物化学
精氨酸
氨基酸
酪氨酸
作者
Jiansheng Lin,Weishi Lin,Yiming Lin,Weilin Peng,Zhiyong Zheng
标识
DOI:10.1016/j.cca.2023.117617
摘要
Neonatal intrahepatic cholestasis due to citrin deficiency (NICCD) is an autosomal recessive disorder caused by SLC25A13 genetic mutations. We retrospectively analyzed 26 Chinese infants with NICCD (years 2014-2022) in Quanzhou City. The plasma citrulline (CIT) concentration analyzed by tandem mass spectrometry (MS/MS), biochemical parameters and molecular analysis results are presented. Twelve genotypes were discovered. The relationship between the CIT concentration and genotype is uncertain. In total, 8 mutations were detected, with 4 variations, c.851_854delGTAT, c.615 + 5G > A, c.1638_1660dup and IVS16ins3kb, constituting the high-frequency mutations. Specifically, we demonstrated 2 patients with NICCD combined with another inborn errors of metabolism (IEM). Patient No. 22 possessed compound heterozygous mutations of c.615 + 5G > A and c.790G > A in the SLC25A13 gene accompanied by compound heterozygous variations of c.C259T and c.A155G in the PTS gene. Additionally, Patient No. 26 carried c.51C > G and c.760C > T in the SLC22A5 gene as well as c.615 + 5G > A and IVS16ins3kb in the SLC25A13 gene. We report a case of the simultaneous occurrence of primary carnitine deficiency (PCD) and NICCD.
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