Glycogen Storage Disease Type III (GSD III)

Although glycogen storage disease type III (GSD III) mostly involves the liver and muscle tissue, some patients may develop severe metabolic derangements that cause secondary neurological manifestations such as seizures, cognitive impairment, and peripheral neuropathy. Having advanced knowledge on therapy development for GSD III, Protheragen is optimally positioned to offer customized therapies and holistic support to accelerate your GSD III therapy research towards commercialization.

Introduction to Glycogen Storage Disease Type III (GSD III)

Glycogen storage disease type III (GSD III), or Cori disease and Forbes disease are names given to it, is an uncommon disease with an approximate frequency of one per one hundred thousand births. It stems from a faulty mutation in the AGL gene, and it is classified as an autosomal recessive illness. Fundamentally, the gene in question encodes for the glycogen debranching enzyme, and failure to produce this enzyme, which is of utmost importance to glycogenolysis, creates an excess production of limit dextrin (an abnormal glycogen structure) in the liver and muscle.

Fig.1 Glycolysis–gluconeogenesis pathway showing steps disrupted in every glycogen storage disease (GSD). (Molares-Vila A, et al., 2021)

Pathogenesis of Glycogen Storage Disease Type III (GSD III)

Glycogen storage disease type III (GSD III) results from genetic mutations in the AGL gene, which leads to enzymatic insufficiency of glycogen debranching, resulting in an abnormal form of glycogen known as limit dextrin in both liver and muscle tissues, as well as problems with glycogen breakdown. Such dysfunction causes hypoglycemia and liver steatosis and, in the case of GSD IIIa, progressive muscle and heart disease. Patients suffer from primary metabolic derangements from defective glucose utilization and associated systemic complications.

Fig.2 The glycogenolytic pathway. (Ørngreen M C, Vissing J., 2017)

Therapeutic Development for Glycogen Storage Disease Type III (GSD III)

Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.

Our Services

To advance the effective management of glycogen storage disease type III (GSD III), Protheragen offers comprehensive diagnostic and therapeutic development services. With a focus on the diverse molecular mechanisms driving GSD III, we are dedicated to developing innovative and targeted therapies that address the significant unmet medical needs. Our team excels in creating highly accurate disease models, enabling rigorous evaluation of the safety, efficacy, and mechanism of action of potential therapeutics.

Therapeutic Development Services

By Molecule Types

• Small Molecule Drug Development
• Cell Therapy Development
• Gene Therapy Development

• Therapeutic Antibody Development
• Therapeutic Peptide Development
• Therapeutic Protein Development

By Mechanism of Action

• Neuroprotective Agent Development
• Glutamate Modulator Development
• Anti-neuroinflammatory Drug Development
• Antioxidant Development

• Mitochondria-targeted Drug Development
• Protein Misfolding Inhibitor Development
• Protein Aggregation Inhibitor Development
• Excitotoxicity Inhibitor Development

Disease Model Development Services

In Vitro Model Development

• Patient-Derived Cell Model
• Neuronal Cell Model
• Glial Cell Model
• Co-Culture Model
• Brain Organoid
• Spinal Cord Organoid

Microfluidic Model Development

• Neurovascular Unit (NVU) Model
• Axon Degeneration Model
• Neuroinflammation Model
• Neuromuscular Junction (NMJ) Model
• Synaptic Plasticity Model
• Organoid-on-a-Chip Model

Animal Model Development

• Agl Knockout (Agl^-/-) Model: This model is characterized by a deficiency in glycogen debranching enzyme activity, resulting in hepatic and muscle glycogen accumulation, fasting hypoglycemia, and progressive myopathy.
• Other Models