Sàng lọc Methylmalonic Acidemia và Propionic Acidemia bằng phương pháp khối phổ đôi: Hồi cứu loạt ca bệnh=Screening for Methylmalonic Acidemia and Propionic Acidemia using tandem mass spectrometry: A retrospective case series

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Tác giả: Tuyết Mai Tô, Thị Chi Mai Trần

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Nghiên cứu y học (Đại học Y Hà Nội), 2024

Mô tả vật lý: tr.350-356

Bộ sưu tập: Metadata

ID: 244765

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Methylmalonic Acidemia (MMA) is a group of autosomal recessive genetic disorders, typically involving defects in the conversion of methylmalonyl-CoA to succinyl-CoA, characterized by the accumulation of methylmalonic acid. Meanwhile, Propionic Acidemia (PPA) is an autosomal recessive disorder related to the conversion of propionyl-CoA to methylmalonyl-CoA by the enzyme propionyl-CoA carboxylase in the mitochondria. Due to nonspecific clinical manifestations, biochemical testing plays a crucial role in screening and diagnosing MMA and PPA. A retrospective study, describing a series of cases, was conducted to evaluate the result of screening for MMA and PPA in high-risk patients. Quantification of acylcarnitines in dried blood spots using tandem mass spectrometry (MS/MS) and analysis of organic acids in urine by gas chromatography-mass spectrometry (GC/MS) were applied for screening and diagnosis in 6 MMA patients and 7 PPA patients (from 9/2018 to 12/2021) at the National Children’s Hospital. Screening results by MS/MS for 6 MMA patients showed 4/6 had elevated C3, 3/6 had decreased C0, and all 6/6 had increased C3/C2 ratio. Screening results for metabolic disorders by MS/MS in 7 PPA patients showed all had elevated C3 and C3/C2 ratio. Urinary organic acid testing showed elevated methylmalonic acid, allowing differentiation between MMA and PPA since methylmalonic acid does not increase in PPA.Methylmalonic Acidemia (MMA) là một nhóm rối loạn di truyền lặn trên nhiễm sắc thể (NST) thường, liên quan đến sự khiếm khuyết trong quá trình chuyển đổi methylmalonyl-CoA thành succinyl-CoA, đặc trưng bởi sự tích tụ của acid methylmalonic. Trong khi đó, Propionic Acidemia (PPA) là bệnh di truyền lặn liên quan đến việc chuyển đổi propionyl-CoA thành methylmalonyl-CoA bởi enzyme propionyl-CoA carboxylase của ty thể. Do các biểu hiện lâm sàng không đặc hiệu, các xét nghiệm hóa sinh đóng vai trò cốt lõi trong sàng lọc, chẩn đoán MMA và PPA. Nghiên cứu hồi cứu, mô tả một loạt ca bệnh được thực hiện nhằm đánh giá kết quả sàng lọc MMA và PPA ở các bệnh nhân có nguy cơ cao. Định lượng các acylcarnitin trong mẫu máu thấm khô bằng kĩ thuật khối phổ đôi (MS/MS) và phân tích acid hữu cơ niệu bằng kỹ thuật sắc ký khí ghép nối khối phổ (GC/ MS) được áp dụng để sàng lọc và chẩn đoán cho 6 bệnh nhân mắc MMA và 7 bệnh nhân mắc PPA (từ 9/2018 đến 12/2021) tại Bệnh viện Nhi Trung ương. Kết quả sàng lọc MS/MS của 6 bệnh nhân MMA có 4/6 tăng C3, 3/6 bệnh nhân giảm C0 và tất cả 6/6 tăng tỉ lệ C3/C2. Kết quả sàng lọc rối loạn chuyển hoá bằng MS/MS của 7 bệnh nhân PPA cho thấy tất cả đều tăng C3 và tỷ lệ C3/C2. Kết quả xét nghiệm acid hữu cơ niệu tăng cao acid methylmalonic cho phép phân biệt giữa bệnh nhân MMA và PPA vì acid methylmalonic không tăng trong PPA.

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