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Case Reports
. 1985;8(2):67-70.
doi: 10.1007/BF01801667.

Riboflavin-responsive ethylmalonic-adipic aciduria

A Green, T G Marshall, M J Bennett, R G Gray, R J Pollitt
Case Reports

Riboflavin-responsive ethylmalonic-adipic aciduria

A Green et al. J Inherit Metab Dis. 1985.

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.

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References

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