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Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
rareA 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.
- Identifiers
- MONDO:0013587 OMIM:614128Orphanet:284435
- Causal genes
- LDHB
- Also known as
- glycogenosis due to lactate dehydrogenase H-subunit deficiency · GSD due to lactate dehydrogenase H-subunit deficiency · lactate dehydrogenase B deficiency · lactate dehydrogenase deficiency type B · lactate dehydrogenase-B deficiency
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