Phân tích gen SLC25A20 và CPT2 trong chẩn đoán khiếm khuyết Beta oxi hoá của axit béo ở ti thể

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Tác giả: Thị Bảo Bùi, Thúy Ngọc Phạm, Văn Thạo Tạ, Thị Chi Mai Trần, Chí Dũng Vũ

Ngôn ngữ: vie

Ký hiệu phân loại: 571.657 +Mitochondria

Thông tin xuất bản: Tạp chí Y học Việt Nam (Tổng hội Y học Việt Nam), 2021

Mô tả vật lý: 176-180

Bộ sưu tập: Metadata

ID: 498285

Thêm vào giỏ

Bệnh lí thiếu hụt Carnitine/acylcarnitine transferase (CACT) và bệnh lí thiếu hụt Carnitine palmitoyltransferase II (CPT II) thuộc nhóm bệnh oxi hóa axit béo trong ti thể. CACT và CPT II là các bệnh lí rối loạn chuyển hóa bẩm sinh (RLCHBS) di truyền hiếm gặp - biến thể di truyền lặn nhiễm sắc thể thường do gen SLC25A20 (gen CACT) và gen CPT2 quy định. Đây là các bệnh lí nguy hiểm để lại các di chứng nặng nề và có thể tử vong. Tuy nhiên, CACT và CPT II có các đặc điểm lâm sàng và cận lâm sàng khá giống với các bệnh lí RLCH oxi hóa axit béo khác và không thể phân biệt về đặc điểm cận lâm sàng và lâm sàng giữa hai bệnh lí này do vậy cần có các phương pháp phù hợp, nhanh chóng để xác định biến thể trên gen SLC25A20 và CPT2 nhằm chẩn đoán và điều trị bệnh. Mục tiêu: Xác định 16 biến thể gen SLC25A20 và 35 biến thể gen CPT2
mô tả kiểu hình và kiểu gen của bệnh nhân mắc biến thể gen SLC25A20/CPT2. Phương pháp: Nghiên cứu ca bệnh gồm mô tả triệu chứng lâm sàng, xét nghiệm sinh hóa và phân tích gen dựa trên phương pháp xây dựng được. Kết quả: Bé gái 10 ngày tuổi, xuất hiện tím tái, ngừng tim, ngưng thở và tử vong. Kết quả xét nghiệm sinh hóa và xét nghiệm amio acid cho thấy hạ glucose máu, nhiễm toan chuyển hóa, tăng amoniac máu
tăng C4, C10, C12, C14, C14OH, C16, C16:1, C16:1OH, C18 và C18:1. Bệnh nhân được xác định có biến thể rs541208710, c.199-10T>
G dạng đồng hợp tử trên gen SLC25A20 và 2 biến thể lành tính/ có thể lành tính với bệnh CPT II là rs2229291 (F352C) (c.1055T>
G (p.Phe352Cys)) và rs1799821 (V368I) (c.1102G>
A (p.Val368Ile)) do vậy chẩn đoán bệnh di truyền mắc phải là bệnh CACT.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.

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