Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.

H R Yoon, S H Hahn, Y M Ahn, S H Jang, Y J Shin, E H Lee, K H Ryu, B L Eun, P Rinaldo, S Yamaguchi

Journal: Journal of inherited metabolic disease 2002;24(8):870-3

PMID: 11916321

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Abstract

Three Korean girls with ethylmalonic encephalopathy, the first Asian cases, were identified. In all three cases, we observed slight improvement in motor functions, cognitive behaviours and chronic mucoid diarrhoea after treatment with riboflavin and/or coenzyme Q10 treatment. The precise pathogenesis of ethylmalonic encephalopathy has not been fully elucidated, but riboflavin treatment may be helpful.

Address: Metabolic Disease Detection Laboratory, Seoul Medical Science Institute, Korea.

DOI: 10.1023/a:1013948409790

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MeSH Terms: Brain Diseases, Metabolic, Inborn, Child, Preschool, Coenzymes, Cognition, Diarrhea, Electron Transport, Female, Humans, Infant, Korea, Malonates, Motor Skills, Riboflavin, Syndrome, Ubiquinone