ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2018
Myopathies Related to Glycogen Metabolism Disorders.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- A Tarui Disease Phenotype with Compensated Hemolysis and a HomozygousJournal of clinical medicine · 2026Article
- Semaglutide-Induced Sarcopenia via GLP-1R-mTOR-Satellite Cells Axis and Muscle-Glucose Feedback Loop Potentially Leading to Refractory Hyperglycemia in Type 2 Diabetes: A Case-Driven Hypothesis.Problemy endokrinologii · 2026Article
- The return of metabolism: biochemistry and physiology of glycolysis.Biological reviews of the Cambridge Philosophical Society · 2026Review
- Colocalization and functional analyses identifyAmerican journal of physiology. Endocrinology and metabolism · 2026Article
- Decoding lactylation in neuropathic pain: Immune cell infiltration patterns and machine learning-identified candidate biomarkers.Medicine · 2026Article
- The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children.Diagnostics (Basel, Switzerland) · 2025Review
- Physical exercise in metabolic myopathies at risk of rhabdomyolysis: a feasible approach or an unavoidable hazard?European journal of applied physiology · 2025Review
- Monoclonal Gammopathy of Clinical Significance-Associated Glycogen Storage Myopathy: A Novel Acquired Muscle Disease.Cureus · 2025Article
- Skeletal muscle disorders as risk factors for type 2 diabetes.Molecular and cellular endocrinology · 2025Review
- Dual role of lactate in human health and disease.Frontiers in physiology · 2025Review
- Diverse electrophysiological demyelinating features in a late-onset glycogen storage disease type IIIa case.Open medicine (Warsaw, Poland) · 2025Article
- Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).Biomolecules · 2024Review
- Lafora Disease: A Case Report and Evolving Treatment Advancements.Brain sciences · 2023Article
- Article
- The transcription regulator ATF4 is a mediator of skeletal muscle aging.GeroScience · 2023Article
- Transcriptome-wide analysis of RNA mBMC genomics · 2023Article
- Identification of kukoamine a as an anti-osteoporosis drug target using network pharmacology and experiment verification.Molecular medicine (Cambridge, Mass.) · 2023Article
- Muscle transcriptome analysis provides new insights into the growth gap between fast- and slow-growingFrontiers in genetics · 2023Article
- LINC00174 Promotes Colon Cancer Progression by Regulating Inflammation and Glycolysis by Targeting the MicroRNA-2467-3p/Enolase 3 Axis.Mediators of inflammation · 2023Article
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Authors and funding
1 author.
Funding
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Abstract
Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and glycolysis (phosphofructokinase (PFK), phosphoglycerate mutase (PGAM2), aldolase A (ALDOA), β-enolase (ENO3)); however, 3 involve glycogen synthesis (glycogenin-1 (GYG1), glycogen synthase (GSE), and branching enzyme (GBE1)). Many present with exercise-induced cramps and rhabdomyolysis with higher-intensity exercise (i.e., PYGM, PFK, PGAM2), yet others present with muscle atrophy and weakness (GYG1, AGL, GBE1). A failure of serum lactate to rise with exercise with an exaggerated ammonia response is a common, but not invariant, finding. The serum creatine kinase (CK) is often elevated in the myopathic forms and in PYGM deficiency, but can be normal and increase only with rhabdomyolysis (PGAM2, PFK, ENO3). Therapy for glycogen storage diseases that result in exercise-induced symptoms includes lifestyle adaptation and carefully titrated exercise. Immediate pre-exercise carbohydrate improves symptoms in the glycogenolytic defects (i.e., PYGM), but can exacerbate symptoms in glycolytic defects (i.e., PFK). Creatine monohydrate in low dose may provide a mild benefit in PYGM mutations.
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