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Article

XDH gene mutation is the underlying cause of classical xanthinuria: a second report.

Kidney international - 1 Jun 2000

Levartovsky D, Lagziel A, Sperling O, Liberman U, Yaron M, Hosoya T, Ichida K, Peretz H

Abstract excerpt

BACKGROUND: Classical xanthinuria is a rare autosomal recessive disorder characterized by excessive excretion of xanthine in urine. Type I disease results from the isolated deficiency of xanthine dehydrogenase (XDH), and type II results from dual deficiency of XDH and aldehyde oxidase. The XDH ge...

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Source

Identifiers

PMID: 10844591
DOI: 10.1046/j.1523-1755.2000.00082.x

Genes

XDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10844591-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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XDH gene mutation is the underlying cause of classical xanthinuria: a second report.PMID 10844591Read ↗

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