Elpeleg O N, Costeff H, Joseph A, Shental Y, Weitz R, Gibson K M
Metabolic Unit, Shaare Zedek Medical Center, Jerusalem, Israel.
Dev Med Child Neurol. 1994 Feb;36(2):167-72. doi: 10.1111/j.1469-8749.1994.tb11825.x.
Eleven new patients of Iraqi-Jewish origin with bilateral optic atrophy, neurological abnormalities ('optic atrophy plus' syndrome) and 3-methylglutaconic aciduria (type III) are described. Clinical abnormalities in decreasing order of frequency were bilateral optic atrophy, extrapyramidal signs, spasticity, ataxia, dysarthria and cognitive deficit. An association with age was found only for spasticity. Spasticity, extrapyramidal signs and optic atrophy frequently led to major disability, in contrast to ataxia, dysarthria and cognitive deficit. The combined excretion of 3-methylglutaconic and 3-methylglutaric acid ranged between 9 and 187 mmol/mol creatinine. The primary enzymatic defect possibly may reside in the mitochondrial respiratory chain.
本文描述了11例具有伊拉克犹太血统的新患者，他们患有双侧视神经萎缩、神经功能异常（“视神经萎缩加”综合征）和3-甲基戊二酸尿症（III型）。临床异常按发生频率递减依次为双侧视神经萎缩、锥体外系体征、痉挛、共济失调、构音障碍和认知缺陷。仅发现痉挛与年龄有关。与共济失调、构音障碍和认知缺陷相比，痉挛、锥体外系体征和视神经萎缩常导致严重残疾。3-甲基戊二酸和3-甲基戊酸的联合排泄量在9至187 mmol/mol肌酐之间。原发性酶缺陷可能存在于线粒体呼吸链中。
