MUT型甲基丙二酸血症基因治疗研究进展
Research progress in gene therapy for MUT-type methylmalonic acidemia
Received date: 2024-03-25
Online published: 2024-12-02
丁一 , 于玥 综述 , 韩连书 审校 . MUT型甲基丙二酸血症基因治疗研究进展[J]. 临床儿科杂志, 2024 , 42(12) : 1051 -1055 . DOI: 10.12372/jcp.2024.24e0274
MUT-type methylmalonic acidemia (MMA) is an autosomal monogenic genetic disorder caused by mutations in the MMUT gene, which can involve multiple organ damage, mainly brain damage, and has a high mortality rate. Diet therapy, levocarnitine and vitamin B12 therapy are the main treatment method for MUT-type MMA, and some severe patients need liver and kidney transplantation, but the treatment effect and prognosis are poor. Gene therapy for MUT-type MMA using various vectors in animal model and phase 1/2 study are underway. Gene therapy in MUT-type MMA clinical trials is still in an early stage and provides a new treatment method. This article reviews the current status of gene therapy research for MUT-type MMA and aims to guide future research.
Key words： methylmalonic acidemia; MMUT gene; gene therapy
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