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.
References
Original article
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)
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Onuora, S. LDHD mutation leads to hyperuricaemia and gout. Nat Rev Rheumatol 16, 2 (2020). https://doi.org/10.1038/s41584-019-0347-y
Published:
Issue Date:
DOI: https://doi.org/10.1038/s41584-019-0347-y