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越南患者的线粒体HMG-CoA合成酶缺乏症

Khanh Ngoc Nguyen1,2, Tran Minh Dien3, Thi Bich Ngoc Can1

  • 1Center of Endocrinology, Metabolism, Genetic/Genomics and Molecular Therapy, Vietnam National Children's Hospital, 18/879 La Thanh, Dong Da, Hanoi 11512, Vietnam.

International journal of molecular sciences
|February 26, 2025
PubMed
概括

线粒体3--3-甲基-CoA合成酶缺乏症 (HMGCS2D) 是一种罕见的代谢障碍. 基因检测是诊断的关键,积极管理可以预防复发,确保受影响儿童的正常发育.

关键词:
这种HMGCS2的变种是HMGCS2.越南越南语越南语没有症状的无症状.c.559+1G>A.559+1G>A.559+1G>A.559+1G>A.559+1G>A.559+1G>A.559+1G>A.559+1G>A.559+1G>A.559+1G>A.线粒体的3 - - 3 - 甲基氨基-CoA合成酶缺乏.在 p.D136V 中,p.F364I 一个小说

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