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, Baik-Lin Eun, P. Rinaldo, S. Yamaguchi

Research output: Contribution to journalArticle

15 Citations (Scopus)

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 Dec 1

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Riboflavin
Ubiquinone
Cognition
Diarrhea
Therapeutics
Ethylmalonic encephalopathy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

Cite this

Yoon, H. R., Hahn, S. H., Ahn, Y. M., Jang, S. H., Shin, Y. J., Lee, E. H., ... 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

Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy : Response to riboflavin. / Yoon, H. R.; Hahn, S. H.; Ahn, Y. M.; Jang, S. H.; Shin, Y. J.; Lee, E. H.; Ryu, K. H.; Eun, Baik-Lin; Rinaldo, P.; Yamaguchi, S.

In: Journal of Inherited Metabolic Disease, Vol. 24, No. 8, 01.12.2001, p. 870-873.

Research output: Contribution to journalArticle

Yoon, HR, Hahn, SH, Ahn, YM, Jang, SH, Shin, YJ, Lee, EH, Ryu, KH, 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, vol. 24, no. 8, pp. 870-873. https://doi.org/10.1023/A:1013948409790
Yoon, H. R. ; Hahn, S. H. ; Ahn, Y. M. ; Jang, S. H. ; Shin, Y. J. ; Lee, E. H. ; Ryu, K. H. ; Eun, Baik-Lin ; Rinaldo, P. ; Yamaguchi, S. / Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy : Response to riboflavin. In: Journal of Inherited Metabolic Disease. 2001 ; Vol. 24, No. 8. pp. 870-873.
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