Riboflavin-responsive ethylmalonic-adipic aciduria

J Inherit Metab Dis. 1985;8(2):67-70. doi: 10.1007/BF01801667.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adipates / urine*
  • Butyrates / metabolism
  • Cells, Cultured
  • Fibroblasts / metabolism
  • Humans
  • Infant
  • Male
  • Malonates / urine*
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / urine
  • Riboflavin / therapeutic use*

Substances

  • Adipates
  • Butyrates
  • Malonates
  • ethylmalonic acid
  • Riboflavin