Article
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2015
Liu Yu-Peng, Ding Yuan, Li Xi-Yuan, Wang Hai-Jun, Song Jin-Qing, Ye Jin-Tang, Wu Tong-Fei, Yang Yan-Ling
Abstract excerpt
Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute brainstem encephalitis and myelitis. The previously healthy girl presented with fever, lethargy and progressive weakness in her extremities at the age of 3 years and 2...
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