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Identification of human D lactate dehydrogenase deficiency

1 Apr 2019

Abstract excerpt

Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the identification of two different homozygous variants resulting in enzymatic loss-of-function in LDHD, encoding lactate dehydrogenase D, in two unrelated patients with elevated D-lactate urinary excretion and plasma concentrations. We establish the role of LDHD...

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PMID: 30931947
DOI: 10.1038/s41467-019-09458-6

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