Glycogen Storage Disease (GSD)
Glycogen Storage Disease (GSD) describes a series of rare genetic conditions that are characterized by episodes of hypoglycemia, muscular atrophy, and hepatic necrosis. Due to our company’s extensive experience in GSD, we are ready to assist you with any bespoke services and complete assistance for your research from GSD therapy development to therapy commercialization.
Introduction to Glycogen Storage Disease
Glycogen storage diseases constitute an uncommon group of metabolic disorders that stem from genetic origin which excessively glycogen accumulation and its subsequent mobilization out of the body. This metabolic derangement generally takes place in muscle or hepatic tissues. In the U.S. alone, the estimated incidence of glycogen storage diseases is about 1 in 20,000 to 25,000 births.
Fig. 1 Consequences of defective G6Pase. (Derks, Terry GJ, et al., 2021)Pathogenesis of Glycogen Storage Disease
The most common forms of glycogen storage disease are due to single genetic aberrations that interfere with the normal activity of glycolytic enzymes which integrate glycogen. Therefore, excessive or insufficient glycogen is stored in various organic tissues. A few types of glycogen storage diseases and their specific pathogenesis are discussed here.
| Disease Types | Deficient Enzyme (Gene) | Symptoms |
|---|---|---|
| GSD Type I (Von Gierke Disease) | Glucose-6-phosphatase/Glucose-6-phosphate translocase (G6PC/SLC37A4/SLC17A3) | Severe hypoglycemia, liver enlargement, and growth retardation |
| GSD Type II (Pompe Disease) | Acid alpha-glucosidase/ Lysosome-associated membrane protein 2 (GAA/LAMP2) | Muscle weakness, breathing problems, and heart problems |
| GSD Type III (Cori Disease) | Glycogen debranching enzyme (AGL) | Muscle weakness, hepatomegaly, and hypoglycemia |
| GSD Type V (McArdle Disease) | Glycogen branching enzyme (GBE1) | Exercise intolerance, muscle cramps, and fatigue |
Types of Glycogen Storage Disease Therapy
Enzyme Replacement Therapy (ERT)
The goal of enzyme replacement therapy or ERT is to correct a pathological condition in a glycogen storage disease (GSD) patient by replacing the deficient or malfunctioning enzymes in an affected person with functional enzymes. Patients with Pompe disease usually perform better in muscle and respiratory functions with ERT using recombinant acid α-glucosidase.
Substrate Reduction Therapy (SRT)
SRT is one of the novel treatments that are being worked upon for GSD patients. SRT requires the removal of accumulative toxic metabolites or substrates under the condition of insufficient enzyme that are associated with GSD. SRT is helpful in controlling the parameters of the affected persons to stop the development of the disease symptoms and as well as stifle the progression of the ailment.
Gene Therapy
Some forms of GSD are known to benefit from this type of treatment or intervention. This method requires the transfer of normal, non-defective genes to the cells of the afflicted patient to do away with the enzyme deficiency. This approach is expected to provide a permanent solution to the underlying genetic defect by aiming to repair it.
Our Services
Based on our proven experience in the biotechnology field, our organization provides services for diagnosing and studying therapeutics for glycogen storage disease which cut across the complete research spectrum.
| Genetically Engineered Models | |||
|---|---|---|---|
| Our company utilizes state-of-the-art transgenic technology and gene editing techniques to introduce specific mutations into genes related to glycogen metabolism in animals. This enables us to generate animal models that accurately replicate the physiological characteristics observed in individuals with glycogen storage diseases. | |||
| Optional Models |
|
|
|
| Spontaneous Models | |||
| In some cases, animal models of glycogen storage disease occur naturally due to spontaneous mutations in genes associated with glycogen metabolism. These models are valuable resources as they closely resemble the human disease condition without the need for genetic manipulation. Researchers can study the phenotypic features, disease progression, and response to therapies in these naturally occurring models. | |||
| Optional Species | Mice, Quails, Cats, Dogs, Sheep, Cattle, Horses, Zebrafish, Others | ||
No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- Derks, Terry GJ, et al. "Glycogen storage disease type Ia: current management options, burden and unmet needs." Nutrients 13.11 (2021): 3828.
- Almodóvar-Payá, Aitana, et al. "Preclinical research in glycogen storage diseases: A comprehensive review of current animal models." International journal of molecular sciences 21.24 (2020): 9621.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.