Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1977:76B:304-11.
doi: 10.1007/978-1-4684-3285-5_46.

Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy

H A Simmonds, K J Van Acker, J S Cameron, A McBurney

Purine excretion in complete adenine phosphoribosyltransferase deficiency: effect of diet and allopurinol therapy

H A Simmonds et al. Adv Exp Med Biol. 1977.

Abstract

1. Abnormal amounts of adenine, 8-hydroxyadenine and 2,8-dihydroxyadenine are found in the urine of homozygotes for APRTase deficiency and are diagnostic of this condition. 2. The renal complication is due to the excessive amounts of 2,8-dihydroxyadenine excreted since it is removed by allopurinol which blocks 2,8-dihydroxyadenine formation. 3. Uric acid metabolism and the excretion of the other minor purine bases is normal, at least in childhood, in homozygotes for APRTase deficiency. 4. Patients with the defect appear to be very sensitive to dietary purine. At least some of the adenine metabolites may have a dietary origin.

PubMed Disclaimer