/glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Rare Disease

MONDO:0013587

Also Known As

GSD due to lactate dehydrogenase H-subunit deficiencyLDH-H subunit deficiencyglycogenosis due to lactate dehydrogenase H-subunit deficiencylactate dehydrogenase B deficiencylactate dehydrogenase-B deficiencyLDH deficiency BLDHBDlactate dehydrogenase deficiency type B

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.