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.
MONDO:0016527
glycogen storage disease due to lactate dehydrogenase deficiency
is_a
MONDO:0017688
disorder of glycolysis
is_a
GSD due to lactate dehydrogenase H-subunit deficiency
exact
LDH deficiency B
related
LDH-H subunit deficiency
exact
LDHBD
related
glycogenosis due to lactate dehydrogenase H-subunit deficiency
exact
lactate dehydrogenase B deficiency
exact
lactate dehydrogenase deficiency type B
related
lactate dehydrogenase-B deficiency
exact
SPAC186.08c