线粒体β氧化对核黄素反应缺陷的神经精神表现
Neuropsychiatric manifestations of defect in mitochondrial beta oxidation response to riboflavin.
作者信息
Triggs W J, Roe C R, Rhead W J, Hanson S K, Lin S N, Willmore L J
机构信息
University of Texas Health Science Center, Department of Neurology, Houston.
出版信息
J Neurol Neurosurg Psychiatry. 1992 Mar;55(3):209-11. doi: 10.1136/jnnp.55.3.209.
Abstract
A 29 year old woman is described with severe hyperemesis gravidarum, atypical migraine, numerous admissions to hospital for psychiatric illness, non-epileptic seizures, and valproate-induced coma. Metabolic studies and measurement of [9,10(n)-3H]palmitate oxidation by cultured fibroblasts suggested a multiple acyl-CoA dehydrogenation disorder. Treatment with riboflavin abolished headaches and abnormal behaviour and normalised the plasma free carnitine level. Subtle defects in mitochondrial beta oxidation may be a treatable cause of disordered behaviour in adults.
摘要
一名29岁女性，患有严重妊娠剧吐、非典型偏头痛、因精神疾病多次入院、非癫痫性发作以及丙戊酸盐诱导的昏迷。代谢研究和通过培养的成纤维细胞对[9,10(n)-3H]棕榈酸氧化的测量提示存在多种酰基辅酶A脱氢酶缺乏症。用核黄素治疗可消除头痛和异常行为，并使血浆游离肉碱水平恢复正常。线粒体β氧化的细微缺陷可能是成人行为障碍的一个可治疗原因。
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