2,8-dihydroxyadeninuria: are there no cases in Scandinavia?

doi:10.1080/00365590510007621

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Article

2,8-dihydroxyadeninuria: are there no cases in Scandinavia?

Scandinavian journal of urology and nephrology - 1 Jan 2005

Arnadottir Margret, Laxdal Thröstur, Halldorsdottir Bergljot

Abstract excerpt

Homozygosity or mixed heterozygosity for mutations in the adenine phosphoribosyltransferase gene cause enzyme deficiency directing adenine through an alternative metabolic pathway. This results in the production of 2,8-dihydroxyadenine, which is actively secreted into the urine. 2,8-dihydroxyadenine is insoluble at physiological urinary pH but as marked supersaturation is possible the manifestations differ: there...

Topics

Adenine
Adenine Phosphoribosyltransferase
Heterozygote
Homozygote
Humans
Mutation
Renal Insufficiency
Scandinavian and Nordic Countries
Urinary Calculi

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Open in PubMed

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PMID: 15764278
DOI: 10.1080/00365590510007621

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