ArticleJIMD reports2021
Human d-lactate dehydrogenase deficiency by
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 9 citations in OpenAlex.
- Serum and urinary D-lactate in pediatric intestinal failure: clinical associations and reference values.Pediatric research · 2026Article
- Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young Boy.JIMD reports · 2025Article
- Mitochondrial Gene Scoring System: Predicting Prognosis and Precision Therapy for TACE Non-Response in Hepatocellular Carcinoma Patients.Journal of Cancer · 2025Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- PMF-seq: a highly scalable screening strategy for linking genetics to mitochondrial bioenergetics.Nature metabolism · 2024Article
- Lactate dehydrogenase D is a general dehydrogenase for D-2-hydroxyacids and is associated with D-lactic acidosis.Nature communications · 2023Article
- Early detection of plasma d-lactate: Toward a new highly-specific biomarker of bacteraemia?Heliyon · 2023Article
- Human d-lactate dehydrogenase deficiency byJIMD reports · 2021Article
- Role of Lactate in Inflammatory Processes: Friend or Foe.Frontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundd-lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d-lactate dehydrogenase. Excessive amount of d-lactate causes d-lactate acidosis associated with neurological manifestations. METHODS AND
resultsWe report here a patient with developmental delay, cerebellar ataxia, and transient hepatomegaly. Enzyme analysis in the patient's skin fibroblast showed decreased mitochondrial complex IV activity. Using whole exome sequencing, we identified compound heterozygous variants in the
conclusionThis is the third report on
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Registered trials
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.