Details of Disease

General Information of Disease (ID: DISLGH8W)

• Disease Name: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
• Synonyms: LDH deficiency B; lactate dehydrogenase deficiency type B; LDHBD; lactate dehydrogenase B deficiency; glycogenosis due to lactate dehydrogenase H-subunit deficiency; lactate dehydrogenase-B deficiency; LDH-H subunit deficiency; GSD due to lactate dehydrogenase H-subunit deficiency
• 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.
• Disease Hierarchy:
  DISQVGBI: Glycogen storage disease due to lactate dehydrogenase deficiency
  DIS30PPZ: Disorder of glycolysis
  DISLGH8W: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013587
  MESH ID: C563641
  UMLS CUI: C3279904
  OMIM ID: 614128
  MedGen ID: 481534
  Orphanet ID: 284435

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LDHB	OT9B1CT3	Supportive	Autosomal dominant	[1]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.