Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0162671 (MELAS)
 587 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied a 5-year-old boy with mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes that are characteristic of the MELAS syndrome. Results of biochemical, histopathological, and molecular genetic studies from the patient's tissue meet the criteria for diagnosis of mitochondrial disease. An A to G transition at the 3243th nucleotide position of mitochondrial DNA (mtDNA) was found in the blood cells and hair follicles, instead of in muscle, from the propositus. To the best of our knowledge, this is the first reported MELAS case associated with mtDNA mutation in blood cells and hair follicles, instead of in the target muscle tissue, that has ever been documented in Taiwan. Brain lesions demonstrated by angiography, computed tomography (CT) and magnetic resonance imaging (MRI) are discussed.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi
PMID:Mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS): report of a sporadic case and review of the literature. 818 91