Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 545-549, 2018.
Artigo
em Chinês
| WPRIM
| ID: wpr-810043
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.
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Índice:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo observacional
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2018
Tipo de documento:
Artigo
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