A mutation in the gene encoding lactate dehydrogenase D (LDHD) causes autosomal recessive gout with hyperuricaemia and underexcretion of uric acid, as evident in a study of a consanguineous Bedouin-Israeli family. Further investigation revealed that the mutation leads to excess blood D-lactate, which is excreted in exchange for reabsorbed uric acid, ultimately leading to hyperuricaemia and gout. Consistent with the clinical phenotype, injections of D-lactate into naive C57BL/6 mice caused an increase in plasma uric acid concentrations.
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Drabkin, M. et al. Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase. J. Clin. Invest. https://doi.org/10.1172/JCI129057 (2019)
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Onuora, S. LDHD mutation leads to hyperuricaemia and gout. Nat Rev Rheumatol 16, 2 (2020). https://doi.org/10.1038/s41584-019-0347-y
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DOI: https://doi.org/10.1038/s41584-019-0347-y
