Identification of c.199-10T>G mutation in SLC25A20 gene related to fatty acid oxidation disorders on a Vietnamese patient

Fatty acid oxidation disorders (FAODS) consist of rare diseases which affect the energy production mitochrondria by disrupting β-oxidation fatty acid, resulting in deficiency and toxic acumulation patient’s body. Typical clinical symtoms FAODS include rhabdomyolysis, myoglobinuria, cardiomyopathy, hypoketotic hypoglycemia liver dysfunction on newborns could lead to mortality most cases. Mutations occur different genes enzymatic pathway may cause diffirent types FAODS.The objective this study was screen identify genetic mutations associated with Vietnamese patients through whole exome sequencing analysis. The result revealed a reported homozygous c.199-10T>G mutation position 10 nucleotides before exon 3 SLC25A20 gene. gene encodes carnitine acylcarnitine translocase (CACT), plays an important role transporting mitochondria. Genetic often carnitine-acylcarnitine (CACTD) - form FAODs. By silico analysis, predicted as splite site that skipping during creation mature mRNA. analysis family showed both parents had heterozygous form. This suggests every mutant allele patient is inherited from parents. Our finding not only improved our understanding but also provides information for future research, diagnosis counseling FAOS patients.