LDHA encodes lactate dehydrogenase A (332 aa). Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+) Highest expression in Cells EBV-transformed lymphocytes (1,357 TPM) and Cells Cultured fibroblasts (1,101 TPM).

Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency is associated with mutations in the LDHA gene on chromosome 11.

The LDHA protein participates in LDHAL6B reduces PYR to LACT, LDH tetramer oxidises LACT to PYR, and LDH tetramer reduces PYR to LACT pathways.

LDHA is classified as a druggable target (Druggable Genome category) with score 52.2.

Genetic testing for LDHA is available. Testing is considered confirmatory for diagnosis.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for glycogen storage disease due to lactate dehydrogenase M-subunit deficiency.

3 publications have been identified in PubMed for glycogen storage disease due to lactate dehydrogenase M-subunit deficiency. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

• Brufau-Cochs M (2026). [PMID: 41937663](https://pubmed.ncbi.nlm.nih.gov/41937663/). *J Dtsch Dermatol Ges*. [Case Report / Case Series]

• Hentschel A (2025). [PMID: 40033989](https://pubmed.ncbi.nlm.nih.gov/40033989/). *J Neuromuscul Dis*. [Case Report / Case Series]

• Koch RL (2025). [PMID: 41213961](https://pubmed.ncbi.nlm.nih.gov/41213961/). *NPJ Genom Med*. [Review / Meta-Analysis]