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Glycogen Storage Diseases and Myoclonus
Research Guide
What is Glycogen Storage Diseases and Myoclonus?
Glycogen storage diseases and myoclonus refers to a cluster of metabolic disorders involving defective glycogen metabolism, such as those linked to glucose-6-phosphatase system deficiencies, that manifest with myoclonic disorders including progressive myoclonus epilepsy and neurodegeneration.
This field encompasses 30,747 papers on glycogen metabolism in the context of myoclonic disorders, glycogen storage diseases, Lafora disease, and genetic mutations affecting the glucose-6-phosphatase system. Research addresses diagnosis, management, and therapeutic aspects of these conditions, including neutrophil dysfunction and epilepsy. Growth rate over the past 5 years is not available from the data.
Topic Hierarchy
Research Sub-Topics
Lafora Disease Genetics
Researchers identify mutations in EPM2A and NHLRC1 genes causing this fatal progressive myoclonus epilepsy, studying polyglucosan accumulation and neuronal loss. Studies explore genotype-phenotype correlations and animal models for therapeutic screening.
Glycogen Storage Disease Type III
This area examines debrancher enzyme deficiencies leading to liver and muscle dysfunction, with research on diagnostic assays, dietary management, and long-term complications like cardiomyopathy. Clinical trials assess enzyme replacement feasibility.
Glucose-6-Phosphatase Deficiency
Studies focus on GSD type I pathophysiology, including hypoglycemia mechanisms and kidney/liver tumors, with advancements in gene therapy and chaperone molecules. Research optimizes continuous glucose monitoring and uncooked cornstarch therapy.
Progressive Myoclonus Epilepsies
Researchers classify PME etiologies beyond glycogenoses, investigating Unverricht-Lundborg disease genetics, neurodegeneration, and anti-epileptic synergies. Neuroimaging correlates myoclonus with cerebellar atrophy.
Glycogen Metabolism in Neurodegeneration
This sub-topic links astrocytic glycogen shunting to neuronal vulnerability in myoclonic disorders and beyond, using isotopic tracing and knockout models. It explores therapeutic modulation of glycogen synthase kinase pathways.
Why It Matters
Glycogen storage diseases contribute to myoclonic disorders through impaired glycogen breakdown, impacting neurodegeneration and epilepsy management. "THE DETERMINATION OF GLYCOGEN IN LIVER AND MUSCLE BY USE OF ANTHRONE REAGENT" (Carroll et al., 1956) established a method using anthrone reagent after KOH or TCA extraction, enabling precise glycogen quantification in tissues affected by these diseases, with 1305 citations reflecting its diagnostic utility. "Enzyme Replacement Therapy in Fabry Disease" (Schiffmann et al., 2001) demonstrated intravenous alpha-galactosidase A infusions as safe with widespread efficacy, offering a model for treating related lysosomal storage disorders involving glycogen metabolism, cited 1297 times. These advances support clinical applications in rheumatology and neurology for monitoring disease progression and evaluating therapies in patients with myoclonus.
Reading Guide
Where to Start
"THE DETERMINATION OF GLYCOGEN IN LIVER AND MUSCLE BY USE OF ANTHRONE REAGENT" (Carroll et al., 1956) first, as it provides a foundational, highly cited (1305 times) method for quantifying glycogen in tissues central to storage disease diagnosis.
Key Papers Explained
"Creatine and Creatinine Metabolism" (Wyss and Kaddurah-Daouk, 2000; 2831 citations) surveys biosynthesis and tissue distribution relevant to metabolic defects in glycogen disorders. "THE DETERMINATION OF GLYCOGEN IN LIVER AND MUSCLE BY USE OF ANTHRONE REAGENT" (Carroll et al., 1956; 1305 citations) builds analytical methods for these metabolites. "Enzyme Replacement Therapy in Fabry Disease" (Schiffmann et al., 2001; 1297 citations) extends to therapeutic applications modeled on storage disease management.
Paper Timeline
Most-cited paper highlighted in red. Papers ordered chronologically.
Advanced Directions
Research continues on genetic mutations and glucose-6-phosphatase roles in neurodegeneration, with no recent preprints or news in the last 12 months indicating steady focus on established mechanisms from the 30,747 papers.
Papers at a Glance
| # | Paper | Year | Venue | Citations | Open Access |
|---|---|---|---|---|---|
| 1 | Creatine and Creatinine Metabolism | 2000 | Physiological Reviews | 2.8K | ✕ |
| 2 | Consensus Statement of the Movement Disorder Society on Tremor | 2008 | Movement Disorders | 2.0K | ✕ |
| 3 | Chronic parkinsonism secondary to intravenous injection of mep... | 1979 | Psychiatry Research | 1.4K | ✕ |
| 4 | Combined (Thalamotomy and Stimulation) Stereotactic Surgery of... | 1987 | Stereotactic and Funct... | 1.3K | ✕ |
| 5 | THE DETERMINATION OF GLYCOGEN IN LIVER AND MUSCLE BY USE OF AN... | 1956 | Journal of Biological ... | 1.3K | ✓ |
| 6 | Enzyme Replacement Therapy in Fabry Disease | 2001 | JAMA | 1.3K | ✕ |
| 7 | Metformin suppresses gluconeogenesis by inhibiting mitochondri... | 2014 | Nature | 1.2K | ✓ |
| 8 | THE DETERMINATION OF GLYCOGEN | 1933 | Journal of Biological ... | 1.2K | ✓ |
| 9 | A rapid filter paper assay for UDPglucose-glycogen glucosyltra... | 1968 | Analytical Biochemistry | 1.2K | ✕ |
| 10 | Niemann-Pick disease type C | 2010 | Orphanet Journal of Ra... | 1.2K | ✓ |
Frequently Asked Questions
What methods are used to determine glycogen in tissues for glycogen storage diseases?
Tissues are extracted by boiling with 30% potassium hydroxide or homogenization with trichloroacetic acid, followed by alcohol precipitation of glycogen. The anthrone reagent then measures glycogen colorimetrically. "THE DETERMINATION OF GLYCOGEN IN LIVER AND MUSCLE BY USE OF ANTHRONE REAGENT" (Carroll et al., 1956) describes this procedure, avoiding copper reduction issues.
How does enzyme replacement therapy apply to storage diseases with myoclonus?
Intravenous infusions of alpha-galactosidase A treat Fabry disease, a lysosomal storage disorder, showing safety and efficacy. This approach reduces substrate accumulation akin to glycogen storage defects. "Enzyme Replacement Therapy in Fabry Disease" (Schiffmann et al., 2001) reports therapeutic benefits across organ systems.
What role does glycogen metabolism play in myoclonic disorders?
Defects in glycogen metabolism, including glucose-6-phosphatase system issues, lead to accumulation causing neurodegeneration and progressive myoclonus epilepsy like Lafora disease. Genetic mutations exacerbate neutrophil dysfunction and epilepsy. The field totals 30,747 papers on these mechanisms.
How is UDPglucose-glycogen glucosyltransferase assayed in glycogen storage research?
A rapid filter paper assay measures enzyme activity using improved biosynthesis of UDP-14C-glucose. This method supports studies of glycogen synthesis defects in storage diseases. "A rapid filter paper assay for UDPglucose-glycogen glucosyltransferase, including an improved biosynthesis of UDP-14C-glucose" (Thomas et al., 1968) details the protocol.
What are key historical methods for glycogen determination?
Early methods precipitated glycogen from alkali digests or TCA extracts for analysis. These laid groundwork for diagnosing storage diseases. "THE DETERMINATION OF GLYCOGEN" (Good et al., 1933) introduced a foundational technique, cited 1234 times.
Open Research Questions
- ? How do specific genetic mutations in the glucose-6-phosphatase system directly trigger myoclonus in glycogen storage diseases?
- ? What is the precise mechanism linking glycogen accumulation to neurodegeneration in Lafora disease and progressive myoclonus epilepsy?
- ? Can enzyme replacement strategies from Fabry disease be adapted for glucose-6-phosphatase deficiencies in myoclonic disorders?
- ? How does neutrophil dysfunction interact with glycogen metabolism defects to worsen epilepsy outcomes?
- ? What therapeutic targets emerge from creatine metabolism pathways in glycogen storage diseases with myoclonus?
Recent Trends
The field maintains 30,747 papers with no specified 5-year growth rate; highly cited works like "Creatine and Creatinine Metabolism" (Wyss and Kaddurah-Daouk, 2000; 2831 citations) continue dominating, but no preprints or news from the last 12 months signal stable progress without new disruptions.
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