PDF(Pubmed)
Abstract：
The current case report describes the clinical, biochemical and genetic characteristics of carnitine-acylcarnitine translocase deficiency (CACTD) in infant male and female twins that presented with symptoms shortly after elective caesarean delivery. The clinical manifestations were neonatal hypoglycaemia, arrhythmia and sudden death. The age of onset was 1.5 days and the age of the death was 1.5-3.5 days. Dried blood filter paper analysis was used for the detection of acylcarnitine. Peripheral venous blood and skin samples were used for next-generation sequencing. The twins and their parents underwent gene analysis and whole exome sequencing analyses of the solute carrier family 25 member 20 (SLC25A20; also known as carnitine-acylcarnitine translocase) gene. Both infants carried compound heterozygous variants of the SLC25A20 gene: variant M1:c.706_707insT:p.R236L fs*12 and variant M2:c.689C>G:p.P230R. The M1 variant was paternal and had not been previously reported regarding CACTD. The M2 variant was maternal. CACTD has severe clinical manifestations and a poor prognosis, which is manifested as hypoketotic hypoglycaemia, hyperammonaemia, liver function damage and elevated creatine kinase.
摘要：
目前的病例报告描述了临床，择期剖腹产后不久出现症状的婴儿男性和女性双胞胎肉碱-酰基肉碱转位酶缺乏症（CACTD）的生化和遗传特征。临床表现为新生儿低血糖,心律失常和猝死。发病年龄为1.5天，死亡年龄为1.5-3.5天。干血滤纸分析用于检测酰基肉碱。外周静脉血和皮肤样品用于下一代测序。双胞胎及其父母进行了溶质载体家族25成员20（SLC25A20；也称为肉碱-酰基肉碱转位酶）基因的基因分析和全外显子组测序分析。两名婴儿均携带SLC25A20基因的复合杂合变体：变体M1：c.706_707insT：p。R236Lfs*12和变体M2：c.689C>G：p。P230R.M1变体是父系的，以前没有关于CACTD的报道。M2变体是母体的。CACTD临床表现严重,预后差,表现为低酮症性低血糖，高氨血症,肝功能损害和肌酸激酶升高。
