HEREDITARY-DEFICIENCY OF ADENINE PHOSPHORIBOSYL TRANSFERASE
- 1 January 1980
- journal article
- research article
- Vol. 15 (3) , 233-238
Abstract
A complete deficiency (> 0.02%) of the enzyme adenine phosphoribosyl transferase (APRT; EC 2.4.2.8) is described in a 12-yr-old patient. The patient developed acute renal failure at the age of 18 mo. due to radiolucent uric acid stones. Using high pressure liquid chromatography, 2,8-dihydroxyadenine was found in the urine rather than uric acid. The pedigree indicates an autosomal recessive mode of inheritance of this disorder.This publication has 3 references indexed in Scilit:
- Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.Archives of Disease in Childhood, 1979
- Enhanced Solubility of 2,8 Dihydroxyadenine (DOA) in Human UrineTransfusion, 1977
- Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal populationBiochemical Genetics, 1977