PYRIMIDINE METABOLISM IN MAN. IV. THE ENZYMATIC DEFECT OF OROTIC ACIDURIA*

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Abstract
Assay procedures were developed for orotidylic pyrophosphorylase and orotidylic decarboxylase, based on the release of C14 labeled carbon dioxide from orotic acid and orotidine 5''-phosphate respectively. Reproducible activities of these enzymes were found in hemolysates of circulating erythrocytes. Reduced activities of the enzymes were found in the parents and 2 of the 3 surviving siblings of the propositus of orotic aciduria. In addition another presumed heterozygote of orotic aciduria was discovered. This finding suggests that orotic aciduria is transmitted as an autosomal recessive trait, which is usually fatal in its homozygous state.