glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Findings
No curated finding names glycogen storage disease due to lactate dehydrogenase H-subunit deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0013587), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced circulating lactate dehydrogenase concentrationHPOHP:0045041
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LDHBHGNC:6541
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- Also called
- glycogenosis due to lactate dehydrogenase H-subunit deficiencyGSD due to lactate dehydrogenase H-subunit deficiencylactate dehydrogenase B deficiencylactate dehydrogenase-B deficiencyLDH-H subunit deficiency