glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Findings
No curated finding names glycogen storage disease due to lactate dehydrogenase M-subunit deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0013047), read 2026-09-29. CC BY 4.0.
Features
23 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal deliveryHPOHP:0001787
- Frequent (30% to 79% of cases)
- Annular cutaneous lesionHPOHP:0025528
- Frequent (30% to 79% of cases)
- Easy fatigabilityHPOHP:0003388
- Frequent (30% to 79% of cases)
- Elevated creatine kinase after exerciseHPOHP:0008331
- Frequent (30% to 79% of cases)
- Erythematous plaqueHPOHP:0025474
- Frequent (30% to 79% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
- Exercise-induced myoglobinuria
Show the remaining 11
- Abnormal circulating lactate dehydrogenase concentrationHPOHP:0045040
- Occasional (5% to 29% of cases)
- Acute kidney injuryHPOHP:0001919
- Occasional (5% to 29% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Occasional (5% to 29% of cases)
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- Occasional (5% to 29% of cases)
- Heat intoleranceHPOHP:0002046
- Occasional (5% to 29% of cases)
- HypercalcemiaHPOHP:0003072
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LDHAHGNC:6535
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
- Also called
- glycogen storage disease caused by mutation in LDHAglycogenosis due to lactate dehydrogenase M-subunit deficiencyGSD due to lactate dehydrogenase M-subunit deficiencylactate dehydrogenase A deficiencyLDH-M subunit deficiencyLDHA glycogen storage disease