glycogen storage disease due to lactate dehydrogenase deficiency
MONDO:0016527Mondo
Findings
No curated finding names glycogen storage disease due to lactate dehydrogenase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
11 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Increased circulating pyruvate concentrationHPOHP:0003542
- Very frequent (80% to 99% of cases)
- Exercise-induced muscle fatigueHPOHP:0009020
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- Muscle stiffnessHPOHP:0003552
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- MyoglobinuriaHPOHP:0002913
- Frequent (30% to 79% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Occasional (5% to 29% of cases)
- RhabdomyolysisHPOHP:0003201
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: glycogen storage disease due to lactate dehydrogenase deficiency
- Also called
- glycogenosis due to lactate dehydrogenase deficiencyGSD due to lactate dehydrogenase deficiencyLDH deficiency