ArticleNature communications2019
Identification of human D lactate dehydrogenase deficiency.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 85 citations in OpenAlex.
- Lactate Signal: Modulator of Cellular Energy Production and Anabolism.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Serum and urinary D-lactate in pediatric intestinal failure: clinical associations and reference values.Pediatric research · 2026Article
- Lactate metabolism and lactylation in cancer: from pathogenesis to therapeutic advances.Signal transduction and targeted therapy · 2026Review
- d-lactate drives lysine d-lactylation to regulate metabolism in Escherichia coli.The Journal of biological chemistry · 2026Article
- From metabolic substrate to epigenetic regulation: roles and mechanisms of lactylation in brain health and disease.Frontiers in molecular neuroscience · 2026Review
- Probiotic Characteristics and Whole Genome Analysis of Lactiplantibacillus plantarum PM8 from Giant Panda (Ailuropoda melanoleuca) Milk.Probiotics and antimicrobial proteins · 2025Article
- Extracellular lactate improves neurogenesis by modulating H3K9 lactylation and SnoN expression under hypoxic conditions.Stem cell research & therapy · 2025Article
- Lactate and lactylation in the kidneys: Current advances and prospects (Review).International journal of molecular medicine · 2025Review
- Gender-Dependent Cognitive and Metabolic Benefits Due to Glyoxalase 1 (Glo1) Overexpression in Age-Accelerated SAMP8 Mice.Antioxidants (Basel, Switzerland) · 2025Article
- Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.JIMD reports · 2025Article
- Induced Resistance against Pseudomonas syringae pv. lachrymans in Cucumber by Spraying Cell-Free Microalgae Supernatant.The plant pathology journal · 2025Article
- Replacement of Isoleucine and Leucine by their Keto Acids leads to increased formation of α-Hydroxy Acids in Chinese Hamster Ovary cells.Biotechnology journal · 2025Article
- Cardiovascular effects of lactate in healthy adults: D-lactate, the forgotten enantiomer-authors' reply.Critical care (London, England) · 2025Article
- Long-Term Safety Evaluation of Fluorescent Gold Nanoclusters Conjugated with α-Lipoic Acid: Insights from a Six-Month In Vivo Study.Journal of functional biomaterials · 2025Article
- Methylglyoxal Formation-Metabolic Routes and Consequences.Antioxidants (Basel, Switzerland) · 2025Review
- Advances in Chiral Metabolomic Profiling and Biomarker Discovery.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Analysis of Serum and Synovial Inflammatory Markers in Periprosthetic Joint Infections: A Narrative Review.Cureus · 2024Review
- Fast, sensitive LC-MS resolution ofAnalytical and bioanalytical chemistry · 2024Article
- PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics.Nature metabolism · 2024Article
- Identification Drug Targets for Oxaliplatin-Induced Cardiotoxicity without Affecting Cancer Treatment through Inter Variability Cross-Correlation Analysis (IVCCA).bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
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Authors and funding
28 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 by demonstrating that LDHD loss-of-function in zebrafish results in increased concentrations of D-lactate. D-lactate levels are rescued by wildtype LDHD but not by patients' variant LDHD, confirming these variants' loss-of-function effect. This work provides the first in vivo evidence that LDHD is responsible for human D-lactate metabolism. This broadens the differential diagnosis of D-lactic acidosis, an increasingly recognized complication of short bowel syndrome with unpredictable onset and severity. With the expanding incidence of intestinal resection for disease or obesity, the elucidation of this metabolic pathway may have relevance for those patients with D-lactic acidosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.