遗传性代谢疾病的临床和生化特征。一、运动障碍。
Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.
机构信息
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
出版信息
Mol Genet Metab. 2019 May;127(1):28-30. doi: 10.1016/j.ymgme.2019.03.007. Epub 2019 Mar 26.
Abstract
About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
摘要
约三分之一有神经病变表现的遗传性代谢病患者存在运动障碍，表现为共济失调、不自主运动或少动-强直综合征。我们复习并更新了与各种运动障碍相关的已知代谢病因列表，发现大约 200 种相关的先天性代谢错误。这是根据系统受累情况创建和维护全面的临床和代谢鉴别诊断列表的系列文章中的第一篇。
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