Abstract
Adenine phosphoribosyltransferase (APRT) converts adenine into AMP in the presence of 5-phosphoribosyl-l-pyrophosphate. When this enzyme is genetically deficient, 2,8-dihydroxyadenine (DHA) urolithiasis may occur.1 It is usually considered that an individual develops DHA urolithiasis only when the subject is homozygous (both of the APRT alleles are defective) although one report described the development of the lithiasis in a heterozygote.2 KeywordsMutant AlleleKorean PeninsulaHomozygous IndividualDefective AlleleAdenine PhosphoribosyltransferaseThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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