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glycogen storage disease due to lactate dehydrogenase H-subunit deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description 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.
Uniprot Description A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.
Mondo Term and Equivalent IDs
MONDO:0013587:  glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
GARD:0003161: 
MESH:C563641: 
Orphanet:284435: 
UMLS:C3279904: