Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation
- 1 November 1995
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 48 (5), 246-250
- https://doi.org/10.1111/j.1399-0004.1995.tb04098.x
Abstract
Adenine phosphoribosyltransferase deficiency is an autosomal recessive purine enzyme defect that causes urolithiasis and, in severe cases, renal failure. Most homozygotes with this disorder were identified by analyses of excreted or surgically removed urinary stones, but some were identified only because they were family members of symptomatic individuals. We report here the detection of adenine phosphoribosyltransferase deficiency in two cases by routine analysis of urinary sediments. 2,8-Dihydroxyadenine-like spherical crystals were observed in the urinary sediment, and a diagnosis of homozygous adenine phosphoribosyltransferase deficiency was confirmed by cellular and molecular methods. A molecular diagnostic system using the polymerase-chain reaction and single-strand conformational polymorphism analysis proved to be a rapid and sensitive method to identify the APRT*J allele, a common mutant allele among the Japanese people. These methods will facilitate identification of symptomatic and asymptomatic individuals with homozygous adenine phosphoribosyltransferase deficiency.Keywords
This publication has 17 references indexed in Scilit:
- Analysis of germline and in vivo somatic mutations in the human adenine phosphoribosyltransferase gene: Mutational hot spots at the intron 4 splice donor site and at codon 87Mutation Research, 1993
- Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiencyUrological Research, 1993
- 2,8-dihydroxyadenine crystalluria vs urolithiasisThe Lancet, 1992
- Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients.JCI Insight, 1992
- 2,8-dihydroxyadenine urolithiasisThe Lancet, 1992
- Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive methodClinica Chimica Acta; International Journal of Clinical Chemistry, 1991
- Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.Proceedings of the National Academy of Sciences, 1989
- Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.JCI Insight, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Complete Deficiency of Adenine PhosphoribosyltransferaseNew England Journal of Medicine, 1977