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

Research output: Contribution to journalArticlepeer-review

20 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
Externally publishedYes

Bibliographical note

Funding Information:
This work was in part supported by the Ministry of Public Health and Welfare (HMP-00-CH05-0005) and by the Research Fund of the Seoul Medical Science Institute (SMSI-00-RG-02-0004). The authors thank Dr Yosuke Shigematsu in Japan and Dr A lberto B. Burlina in Italy for illuminating discussion and active interest during the progress of this work.

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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