Abstract |
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 analysis. We also demonstrate the use of starch-gel electrophoresis for differentiation between the type II mutant enzyme and the wild-type enzyme.
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Authors | A Sahota, J Chen, M A Behzadian, R Ravindra, H Takeuchi, P J Stambrook, J A Tischfield |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 48
Issue 5
Pg. 983-9
(May 1991)
ISSN: 0002-9297 [Print] United States |
PMID | 1673292
(Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)
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Chemical References |
- Nucleotides
- 2,8-dihydroxyadenine
- Adenine Phosphoribosyltransferase
- Adenine
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Topics |
- Adenine
(analogs & derivatives, metabolism)
- Adenine Phosphoribosyltransferase
(genetics, metabolism)
- Adult
- Genetic Carrier Screening
- Heterozygote
- Humans
- Japan
- Kidney Calculi
(chemistry)
- Lymphocytes
(enzymology)
- Male
- Mutation
(genetics)
- Nucleotides
(metabolism)
- Polymorphism, Restriction Fragment Length
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