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Article

Chronic renal failure in a mouse model of human adenine phosphoribosyltransferase deficiency.

The American journal of physiology - 1 Jul 1998

Stockelman M G, Lorenz J N, Smith F N, Boivin G P, Sahota A, Tischfield J A, Stambrook P J

Abstract excerpt

In humans, adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) deficiency can manifest as nephrolithiasis, interstitial nephritis, and chronic renal failure. APRT catalyzes synthesis of AMP from adenine and 5-phosphoribosyl-1-pyrophosphate. In the absence of APRT, 2,8-dihydroxyadenine (DHA) is produced from adenine by xanthine dehydrogenase (XDH) and can precipitate in the renal interstitium, resulting in kidney...

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Source

Identifiers

PMID: 9689017
DOI: 10.1152/ajprenal.1998.275.1.F154

Genes

APRT
XDH

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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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