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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...

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PMID: 15764278
DOI: 10.1080/00365590510007621

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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