Riboflavin-responsive ethylmalonic-adipic aciduria.
A patient presenting with a condition resembling Reye's syndrome was found to have a urinary organic acid excretion pattern similar to those previously described in a single patient with ethylmalonic-adipic aciduria. The present patient responded clinically to riboflavin supplementation and his fibroblasts, when cultured in riboflavin-depleted medium, showed an abnormal reduction in the rate of butyrate oxidation.
D000272:Adipates / Q000652:urine*; D002087:Butyrates / Q000378:metabolism; D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D008314:Malonates / Q000652:urine*; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000652:urine; D012256:Riboflavin / Q000627:therapeutic use*
D000272:Adipates; D002087:Butyrates; D008314:Malonates; C038080:ethylmalonic acid; D012256:Riboflavin