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儿童时期ADH5/ALDH2缺乏的特征表型

Mio Matsumoto1, Momoko Oyake1, Tomoyo Itonaga1

  • 1Department of Pediatrics, Oita University School of Medicine, Yufu-City, Oita, Japan.

European journal of medical genetics
|April 13, 2024
PubMed
概括

化脱酶 (ALDH) 基因缺陷,如ADH5/ALDH2,导致罕见的遗传综合征. 早期诊断酒精和代谢功能障碍 (AMeD) 综合征对于管理各种症状和改善患者生活质量至关重要.

关键词:
在ADH5/ALDH2缺乏症中.在AMED综合征中,AMED是最常见的症状.甲甲是一种形式的甲.失败的增长失败的成长血液学缺陷 血液学缺陷

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