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Am J Hum Genet. 1991 May;48(5):983-9.

2,8-Dihydroxyadenine lithiasis in a Japanese patient heterozygous at the adenine phosphoribosyltransferase locus.

Author information

1
Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46202-5251.

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.

PMID:
1673292
PMCID:
PMC1683049
[Indexed for MEDLINE]
Free PMC Article

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