Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G
10.3760/cma.j.issn.0578-1310.2018.07.014
- VernacularTitle: SLC25A20基因c.199-10T>G纯合变异致肉碱-酰基肉碱移位酶缺乏症四例分析
- Author:
Xin FAN
1
;
Bobo XIE
;
Qiang ZHANG
;
Shang YI
;
Guoxing GENG
;
Qi YANG
;
Jingsi LUO
;
Jin WANG
;
Chuan LI
;
Shaoke CHEN
;
Yiping SHEN
Author Information
1. Central Laboratory of Genetics and Metabolism, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530000, China
- Publication Type:Clinical Trail
- Keywords:
Metabolism, inborn errors;
Carnitine acyltransferases
- From:
Chinese Journal of Pediatrics
2018;56(7):545-549
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical, biochemical and genetic features of four carnitine-acylcarnitine translocase deficiency cases.
Methods:Four cases diagnosed with carnitine-acylcarnitine translocase deficiency from Guangxi Maternal and Child Health Hospital were studied. DNA was extracted from dry blood filter for gene analysis. SLC25A20 gene analysis was performed in 1 case and the whole exon sequence analysis was performed in 3 cases.
Results:Retrospective study on unrelated carnitine-acylcarnitine translocase deficiency patients, the age of onset was 1-28 d, the age of death were 1.5-30 d, main clinical features were hypoglycemia (4 cases), arrhythmia (2 cases), sudden death (2 cases). Biochemical test showed hypoglycemia (1.2-2.0 mmol/L) , elevated creatine kinase (955-8 361 U/L) and creatine kinase isozyme(199-360 U/L), normal or decreased free carnitine level (3.70-27.07 μmol/L) , elevated long-chain acylcarnitine (palmityl carnitine 1.85-14.84 μmol/L). The gene tests showed that all 4 cases carried SLC25A20 gene c.199-10T> G homozygous mutation, inherited from their parents. By analyzing the haplotype, we found that the mutation loci of C. 199-10T> G were all in the same haplotype.
Conclusion:The c.199-10T> G mutation is an important molecular cause of carnitine-acylcarnitine translocase deficiency, which has relatively high frequency in Guangxi population, and is related to the founder effect.
