{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Drabkin M"],"funding":["Morris Kahn Family Foundation"],"pagination":["5163-5168"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6877321"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["129(12)"],"pubmed_abstract":["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 encoded d-lactate dehydrogenase, resulting in augmented blood levels of d-lactate, a stereoisomer of l-lactate, which is normally present in human blood in miniscule amounts. Consequent excessive renal secretion of d-lactate in exchange for uric acid reabsorption culminated in hyperuricemia and gout. We showed that LDHD expression is enriched in tissues with a high metabolic rate "],"journal":["The Journal of clinical investigation"],"pubmed_title":["Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase."],"pmcid":["PMC6877321"],"funding_grant_id":["Not Applicable"],"pubmed_authors":["Wormser O","Halperin D","Yogev Y","Zarivach R","Zalk R","Kadir R","Zeller L","Perez Y","Landau D","Birk OS","Gurevich E","Drabkin M"],"additional_accession":[]},"is_claimable":false,"name":"Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.","description":"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 encoded d-lactate dehydrogenase, resulting in augmented blood levels of d-lactate, a stereoisomer of l-lactate, which is normally present in human blood in miniscule amounts. Consequent excessive renal secretion of d-lactate in exchange for uric acid reabsorption culminated in hyperuricemia and gout. We showed that LDHD expression is enriched in tissues with a high metabolic rate ","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Dec","modification":"2026-04-18T11:13:45.528Z","creation":"2025-02-19T03:38:21.1Z"},"accession":"S-EPMC6877321","cross_references":{"pubmed":["31638601"],"doi":["10.1172/jci129057","10.1172/JCI129057"]}}