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

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

  • J Inherit Metab Dis. 2001 Dec;24(8):870-3. doi: 10.1023/a:1013948409790.
H R Yoon 1,  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
Affiliations

Affiliation

  • 1 Metabolic Disease Detection Laboratory, Seoul Medical Science Institute, Korea.
PMID: 11916321 DOI: 10.1023/a:1013948409790
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.

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