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Article

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.

The Journal of clinical investigation - 2 Dec 2019

Drabkin Max, Yogev Yuval, Zeller Lior, Zarivach Raz, Zalk Ran, Halperin Daniel, Wormser Ohad, Gurevich Evgenia, Landau Daniel, Kadir Rotem, Perez Yonatan, Birk Ohad S

Abstract excerpt

Gout is caused by deposition of monosodium urate crystals in joints when plasma uric acid levels are chronically elevated beyond the saturation threshold, mostly due to renal underexcretion of uric acid. Although molecular pathways of this underexcretion have been elucidated, its etiology remains mostly unknown. We demonstrate that gout can be caused by a mutation in LDHD within the putative catalytic site of the...

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PMID: 31638601
DOI: 10.1172/JCI129057
PMCID: PMC6877321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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