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J Inherit Metab Dis. 1985;8(2):67-70.

Riboflavin-responsive ethylmalonic-adipic aciduria.

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.

PMID:
3939533
[Indexed for MEDLINE]

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