PHÂN TÍCH GEN SLC25A20 VÀ CPT2 TRONG CHẨN ĐOÁN KHIẾM KHUYẾT BETA OXI HOÁ CỦA AXÍT BÉO Ở TI THỂ

Abstract

Carnitine-acylcarnitine translocase deficiency (CACT) and Carnitine palmitoyltransferase II deficiency (CPT II) are disorders of mitochondrial fatty acid β-oxidation (FAO), type of metabolism inborn errors. These conditions are inherited in an autosomal recessive pattern, the gene associated with this disorder respectively SLC25A20 (CACT gene) and CPT2 gene. CACT and CPT II are dangerously disordered and may have severe consequences and even death. But these disorders had similar and nonspecific clinical symptoms also testing with another FAO disorder and other metabolism inborn errors or congenital defect, specifically, cannot distinguish and diagnostic between CACT and CPT II disorder. Therefore, this is necessary for a suitable method and quicky time for diagnostic mutation in SLC25A20 and CPT II gene to diagnostic and treat diseases. Objectives: to identify 16 mutations in the SLC25A20 gene and 35 mutations in the CPT2 gene to describe the phenotype and genotype of the patient who had SLC25A20/CPT2 mutation. Methods: case study including clinical symptom descriptions and identifying SLC25A20/CPT2 mutation. Results: the newborn girl-patient 10 days old with clinical symptoms include cyanosis, cardiac arrest, apnea, and death. The blood testing reveals that decrease glucose, metabolism acidosis, hyperammonemia, increase C4, C10, C12, C14, C14OH, C16, C16:1, C16:1OH, C18 and C18:1. The genetic test showed that the patient had one pathology homozygous mutation rs541208710, c.199-10T>G in SLC25A20 gene and two other mutation – benign/likely benign with CPT II deficiency in CPT2 gene are rs2229291 (F352C) (c.1055T>G (p.Phe352Cys)) and rs1799821 (V368I) (c.1102G>A (p.Val368Ile)). The diagnosis is CACT deficiency. Conclusion: Identifying 16 mutations in the SLC25A20 gene and 35 mutations in the CPT2 genes can help to diagnostic CACT/CPT II deficiency.