glycogen storage disease due to phosphoglycerate mutase deficiency
Findings
No curated finding names glycogen storage disease due to phosphoglycerate mutase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.
Definition from the Mondo Disease Ontology (MONDO:0009865), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Reduced muscle phosphoglycerate mutase activityHPOHP:6000197
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Exercise intoleranceHPOHP:0003546
- Frequent (30% to 79% of cases)
- Exercise-induced muscle crampsHPOHP:0003710
- Frequent (30% to 79% of cases)
- Muscle fiber tubular inclusionsHPOHP:0100301
- Frequent (30% to 79% of cases)
- MyalgiaHPOHP:0003326
- Frequent (30% to 79% of cases)
- Myoglobinuria
Reported absent (2)
- Abnormal nerve conduction velocityHPOHP:0040129
- EMG abnormalityHPOHP:0003457
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.
- PGAM2HGNC:8889
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
8 names
Resolves to: glycogen storage disease due to phosphoglycerate mutase deficiency
- Also called
- glycogen storage disease caused by mutation in PGAM2glycogen storage disease type 10glycogenosis due to phosphoglycerate mutase deficiencyGSD due to phosphoglycerate mutase deficiencyGSD type 10muscle phosphoglycerate mutase deficiencymyopathy due to phosphoglycerate mutase deficiencyPGAM2 glycogen storage disease