Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
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.
Yoon
H R
HR
Metabolic Disease Detection Laboratory, Seoul Medical Science Institute, Korea.
Hahn
S H
SH
Ahn
Y M
YM
Jang
S H
SH
Shin
Y J
YJ
Lee
E H
EH
Ryu
K H
KH
Eun
B L
BL
Rinaldo
P
P
Yamaguchi
S
S
D020739:Brain Diseases, Metabolic, Inborn / Q000188:drug therapy* / Q000503:physiopathology / Q000523:psychology; D002675:Child, Preschool; D003067:Coenzymes; D003071:Cognition / Q000187:drug effects; D003967:Diarrhea / Q000188:drug therapy; D004579:Electron Transport; D005260:Female; D006801:Humans; D007223:Infant; D007723:Korea; D008314:Malonates / Q000652:urine*; D009048:Motor Skills / Q000187:drug effects; D012256:Riboflavin / Q000627:therapeutic use*; D013577:Syndrome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000627:therapeutic use
D003067:Coenzymes; D008314:Malonates; D014451:Ubiquinone; C038080:ethylmalonic acid; C024989:coenzyme Q10; D012256:Riboflavin