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A condition that affects how the body breaks down sugar to use as energy in muscle cells. Unlike people with lactate dehydrogenase A deficiency, people with this condition typically do not have any signs or symptoms. It is unclear why this condition does not cause any health problems. Affected people are usually diagnosed when routine blood tests reveal reduced activity of the enzyme lactate dehydrogenase. LDHBD is caused by mutations in the LDHB gene and is inherited in an autosomal recessive manner.
Features include: Reduced circulating lactate dehydrogenase concentration.
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Organ System | Phenotype Count | Example Features |
|---|---|---|
Lab test results | 1 | Reduced circulating lactate dehydrogenase concentration |
LDHB encodes lactate dehydrogenase B (334 aa). Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+) Highest expression in Cells EBV-transformed lymphocytes (1,128 TPM) and Heart Left Ventricle (873.8 TPM).
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency is associated with mutations in the LDHB gene on chromosome 12.
The LDHB protein participates in Pancreatic pro-acinar cell produces pancreatic acinar cell pathway.
LDHB is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.
Genetic testing for LDHB 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 H-subunit deficiency.
1 publication has been identified in PubMed for glycogen storage disease due to lactate dehydrogenase H-subunit deficiency. Research spans Review / Meta-Analysis (100%).
Wang K (2025). [PMID: 39980550](https://pubmed.ncbi.nlm.nih.gov/39980550/). *Front Oncol*. [Review / Meta-Analysis]