Abstract

A NUMBER of purine and pyrimidine bases have been demonstrated in human urine in health or in disease1–3. Urinary excretion of orotic acid was found in studies of the propositus and so far only described case of congenital orotic aciduria4. Both orotic acid and orotidine (formed by the irreversible dephosphorylation of orotidine-5′-phosphate) are excreted in large amounts during therapy with 6-azauracil or 6-azauridine, compounds which on conversion to 6-azauridylic acid competitively inhibit the decarboxylation of orotidine-5′-phosphate to form uridine-5′-phosphate5. In work reported here evidence is presented for urinary excretion of orotic acid and orotidine by normal subjects, and for an abnormal pattern in presumed heterozygotes of congenital orotic aciduria.

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