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glycogen storage disease VII - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Increased total bilirubin, Reduced muscle 6-phosphofructokinase activity, and Exercise-induced muscle fatigue and others; and very common findings: Increased muscle glycogen content, Low red blood cell count (anemia), and Myotonia. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11	Reduced muscle 6-phosphofructokinase activity, Exercise-induced muscle fatigue, Muscle weakness
Lab test results	3	Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Elevated circulating aldolase concentration, Elevated LDH (tissue damage marker) (increased circulating lactate dehydrogenase concentration)
Blood and immune system	3	Increased immature red blood cells (reticulocytosis), Red blood cell destruction (hemolytic anemia), Low red blood cell count (anemia)
Brain and nerves	2	Exercise-induced muscle fatigue, Exercise intolerance
Digestive system	2	Jaundice, Cholelithiasis
Kidneys and urinary system	1	Blood in the urine (hematuria)
Bones and joints	1	Skeletal muscle atrophy

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

45 publications have been identified in PubMed for glycogen storage disease VII. Research spans Case Report / Case Series (25%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	9	25%
Research summaries	8	22%
Disease patterns and progression	6	17%
Clinical study results	5	14%
Testing and diagnosis research	4	11%
Laboratory research	4	11%

Recent Publications

Costa MP (2026). [PMID: 41797620](https://pubmed.ncbi.nlm.nih.gov/41797620/). *Am J Med Genet A*. [Clinical Trial Publication]
Uçar SK (2026). [PMID: 42070995](https://pubmed.ncbi.nlm.nih.gov/42070995/). *J Inherit Metab Dis*. [Epidemiology / Natural History]
Chen Z (2026). [PMID: 41603948](https://pubmed.ncbi.nlm.nih.gov/41603948/). *Acta Diabetol*. [Review / Meta-Analysis]
Martins JCC (2026). [PMID: 41662339](https://pubmed.ncbi.nlm.nih.gov/41662339/). *PLoS One*. [Clinical Trial Publication]
Mueller MM (2026). [PMID: 41948450](https://pubmed.ncbi.nlm.nih.gov/41948450/). *Orthop J Sports Med*. [Epidemiology / Natural History]
Yuan C (2026). [PMID: 41861207](https://pubmed.ncbi.nlm.nih.gov/41861207/). *Medicine (Baltimore)*. [Case Report / Case Series]
Magner M (2026). [PMID: 41732189](https://pubmed.ncbi.nlm.nih.gov/41732189/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Weinstein DA (2025). [PMID: 40064185](https://pubmed.ncbi.nlm.nih.gov/40064185/). *J Inherit Metab Dis*. [Clinical Trial Publication]
Yang M (2025). [PMID: 41070653](https://pubmed.ncbi.nlm.nih.gov/41070653/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Al-Hussaini A (2025). [PMID: 40743267](https://pubmed.ncbi.nlm.nih.gov/40743267/). *PLoS One*. [Basic Science / Preclinical]

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glycogen storage disease VII

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Genetic Landscape

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glycogen storage disease VII

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team