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October 1986

A Mutant Adenine Phosphoribosyltransferase in 2,8-Dihydroxyadenine Urolithiasis

Author Affiliations

From the Department of Medicine and Physical Therapy, University of Tokyo School of Medicine (Drs Nishida and Miyamoto) and the Division of Urology, National Mito Hospital (Dr Hirano), Tokyo.

Arch Intern Med. 1986;146(10):2068-2070. doi:10.1001/archinte.1986.00360220250040

• In one case of 2,8-dihydroxyadenine urolithiasis, reduced adenine phosphoribosyltransferase activity was found. The patient's enzyme had normal affinity for adenine but reduced affinity for substrate phosphoribosyl-pyrophosphate. It was much more stable at 60°C than control. It seems that erythrocyte adenine phosphoribosyltransferase obtained from the patient may be a variant enzyme.

(Arch Intern Med 1986;146:2068-2070)