PGAM2 function has not been fully characterized.

Glycogen storage disease due to phosphoglycerate mutase deficiency is associated with mutations in the PGAM2 gene on chromosome 7.

Genetic testing for PGAM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for glycogen storage disease due to phosphoglycerate mutase deficiency has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for glycogen storage disease due to phosphoglycerate mutase deficiency.

49 publications have been identified in PubMed for glycogen storage disease due to phosphoglycerate mutase deficiency. Research spans Case Report / Case Series (24%), Epidemiology / Natural History (22%), and Basic Science / Preclinical (16%).

Recent Publications

• Costa MP (2026). [PMID: 41797620](https://pubmed.ncbi.nlm.nih.gov/41797620/). *American journal of medical genetics. Part A*. [Epidemiology / Natural History]

• Nygaard LK (2026). [PMID: 41478602](https://pubmed.ncbi.nlm.nih.gov/41478602/). *Canadian journal of diabetes*. [Diagnostic / Biomarker]

• Uçar SK (2026). [PMID: 42070995](https://pubmed.ncbi.nlm.nih.gov/42070995/). *J Inherit Metab Dis*. [Epidemiology / Natural History]

• Bornes TD (2026). [PMID: 41733682](https://pubmed.ncbi.nlm.nih.gov/41733682/). *Archives of orthopaedic and trauma surgery*. [Case Report / Case Series]

• Xiao R (2026). [PMID: 41721410](https://pubmed.ncbi.nlm.nih.gov/41721410/). *Journal of translational medicine*. [Diagnostic / Biomarker]

• Hogrel JY (2026). [PMID: 42082675](https://pubmed.ncbi.nlm.nih.gov/42082675/). *J Neurol*. [Epidemiology / Natural History]

• Wang M (2026). [PMID: 41775331](https://pubmed.ncbi.nlm.nih.gov/41775331/). *Clinics and research in hepatology and gastroenterology*. [Diagnostic / Biomarker]

• Mueller MM (2026). [PMID: 41958685](https://pubmed.ncbi.nlm.nih.gov/41958685/). *Orthop J Sports Med*. [Epidemiology / Natural History]

• Ma N (2026). [PMID: 42133539](https://pubmed.ncbi.nlm.nih.gov/42133539/). *FASEB J*. [Basic Science / Preclinical]

• Yang J (2025). [PMID: 40831160](https://pubmed.ncbi.nlm.nih.gov/40831160/). *Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics*. [Clinical Trial Publication]