中国实用儿科杂志2025，Vol.40Issue(12)：994-999,6.DOI:10.19538/j.ek2025120605
硫胺素及硫胺素代谢障碍综合征
Thiamine and thiamine metabolism dysfunction syndrome
摘要
Abstract
Thiamine is an essential water-soluble vitamin,playing a vital role in mitochondrial energy metabolism.Thiamine deficiency can affect the metabolic,nervous,cardiovascular,respiratory,gastrointestinal,and musculoskeletal systems.The causes of thiamine deficiency include primary and secondary factors.The primary cause is genetic defects in proteins involved in thiamine transport and metabolism,leading to inborn errors of thiamine metabolism known as thiamine metabolism dysfunction syndromes(THMD).Five types have been identified,namely THMD1 to THMD5.The patients with THMD1 presents with the classic triad of diabetes mellitus,megaloblastic anemia,and sensorineural hearing loss.THMD2 to THMD5 primarily involve the nervous system.The patient's brain MRI usually shows Leigh or Leigh-like syndrome.Early intervention with high-dose thiamine can significantly improve outcomes of the patients.THMD is often misdiagnosed and misses the optimal treatment window,ultimately resulting in death or permanent neurological sequelae.This article aims to analyze the clinical characteristics of thiamine and thiamine metabolism dysfunction syndromes and enhance vigilance against thiamine deficiency,facilitating timely interventions to reduce disability and mortality.关键词
硫胺素/硫胺素代谢障碍综合征/线粒体/Leigh综合征/耳聋Key words
thiamine/thiamine metabolic dysfunction syndrome/mitochondria/leigh syndrome/hearing loss分类
医药卫生引用本文复制引用
李东晓,郭铭威,杨艳玲..硫胺素及硫胺素代谢障碍综合征[J].中国实用儿科杂志,2025,40(12):994-999,6.基金项目
国家自然科学基金项目(82000850) （82000850）
国家重点研发计划(2021YFC2700903,2022YFC2703401) （2021YFC2700903,2022YFC2703401）
