Premium
Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: Response to riboflavin
Author(s) -
Yoon HR.,
Hahn S. H.,
Ahn Y. M.,
Jang S. H.,
Shin Y. J.,
Lee E. H.,
Ryu K. H.,
Eun B. L.,
Rinaldo P.,
Yamaguchi S.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1013948409790
Subject(s) - riboflavin , coenzyme q10 , encephalopathy , pathogenesis , medicine , gastroenterology , biology , biochemistry
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 Q 10 treatment. The precise pathogenesis of ethylmalonic encephalopathy has not been fully elucidated, but riboflavin treatment may be helpful.