Disease association ontology term - MONDO:0013587 - glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Term summary
- ID
- MONDO:0013587
- Name
- glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
- Ontology or CV name
- Disease association
- 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.
