Article
2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.
American journal of human genetics - 1 May 1991
Sahota A, Chen J, Behzadian M A, Ravindra R, Takeuchi H, Stambrook P J, Tischfield J A
Abstract excerpt
All reported cases of 2,8-dihydroxyadenine (DHA) lithiasis have been due to functional homozygous deficiency of adenine phosphoribosyltransferase (APRT). Here we describe the first case of DHA lithiasis in a patient who has functional APRT activity in cultured lymphoblasts. The patient is heterozygous for Japanese-type (type II) APRT deficiency as demonstrated by starch-gel electrophoresis and DNA sequence...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Adult
- Genetic Carrier Screening
- Heterozygote
- Humans
- Japan
- Kidney Calculi
- Lymphocytes
- Male
- Mutation