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

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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 Q 10 treatment. The precise pathogenesis of ethylmalonic encephalopathy has not been fully elucidated, but riboflavin treatment may be helpful.

Original languageEnglish
Pages (from-to)870-873
Number of pages4
JournalJournal of Inherited Metabolic Disease
Volume24
Issue number8
DOIs
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Yoon, H. R., 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. (2001). Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: Response to riboflavin. Journal of Inherited Metabolic Disease, 24(8), 870-873. https://doi.org/10.1023/A:1013948409790