Details of Disease

General Information of Disease (ID: DISRX3JM)

• Disease Name: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
• Synonyms: glycogen storage disease XI; GSD XI; glycogenosis type 11; GSD 11; lactate dehydrogenase deficiency type A; glycogen storage disease type 11; GSD11; GSD type 11; LDH-M subunit deficiency; LDHA glycogen storage disease; glycogenosis due to lactate dehydrogenase M-subunit deficiency; lactate dehydrogenase A deficiency; GSD due to lactate dehydrogenase M-subunit deficiency; glycogen storage disease caused by mutation in LDHA
• Definition: A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.
• Disease Hierarchy:
  DISYGNOB: Disorder of glycogen metabolism
  DIS30PPZ: Disorder of glycolysis
  DISRX3JM: Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013047
  MESH ID: C538133
  UMLS CUI: C2931743
  OMIM ID: 612933
  MedGen ID: 419152
  Orphanet ID: 284426

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LDHA	TTW76JE	Strong	Autosomal recessive	[1]
LDHA	TTW76JE	Strong	Biomarker	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LDHA	OTN7K4XB	Strong	Autosomal recessive	[1]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.