Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

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.

Also known as: GSD due to lactate dehydrogenase H-subunit deficiency, LDH-H subunit deficiency, glycogenosis due to lactate dehydrogenase H-subunit deficiency, lactate dehydrogenase B deficiency, lactate dehydrogenase-B deficiency, LDH deficiency B, LDHBD, lactate dehydrogenase deficiency type B

2 clinical trials for this condition and its sub-types.