Glycogen Storage Disease Type III (GSDIII)
Glycogen storage disease type III (GSDIII), also known as Cori disease or Forbes disease, is a rare inherited metabolic disorder that affects the body's ability to break down glycogen. Our company is at the forefront of rare disease research, particularly in GSDIII. We offer comprehensive and tailored one-stop services for researchers and scientists in this specialized area.
Overview of GSDIII
With a frequency of 1 in 100,000 births, GSDIII is caused by a deficiency of the enzyme amylo-1,6-glucosidase, also known as the glycogen debranching enzyme, which plays a crucial role in breaking down glycogen into glucose for energy production. Individuals with GSDIII may experience a range of symptoms, including hypoglycemia (low blood sugar), hepatomegaly (enlarged liver), muscle weakness, and growth retardation.
Fig.1 GSD can lead to long-term liver damage. (Pursell, N., et al., 2018)Pathogenesis of GSDIII
This genetic disorder follows an autosomal recessive pattern, resulting from mutations in the AGL gene, which encodes the glycogen debranching enzyme. In individuals with GSDIII, the deficiency of the glycogen debranching enzyme leads to the accumulation of abnormal glycogen structures in tissues such as the liver and muscles. This abnormal glycogen structure hinders its breakdown into glucose. As a consequence, affected individuals experience a shortage of glucose required for energy production.
Fig.2 Glycogen metabolism. (Wicker, C., et al., 2023)Diagnostics Development of GSDIII
Analysis of Enzyme Activity
A definitive diagnosis of GSDIII is typically achieved by analyzing the activity of the glycogen debranching enzyme in a liver biopsy sample to confirm the presence of the GSDIII disease and assess its severity.
Molecular Diagnosis
Genetic testing can identify mutations in the AGL gene responsible for encoding the glycogen debranching enzyme. By pinpointing specific genetic mutations to confirm the diagnosis of GSDIII and discern different subtypes of the disease.
Therapeutics Development of GSDIII
| Types | Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Gene therapy | lipid-nanoparticle-mediated RNAi gene silence | Inhibition of glycogen synthase 2 | Glycogen synthase 2 | Preclinical research |
| Dietary modifications | Maïzena® | Supplementation of raw cornstarch | Long-acting starch | Approved |
| Glycosade® | Supplementation of raw cornstarch | Long-acting starch | Approved | |
| Cardiac failure therapy | ACE inhibitors | Inhibition of angiotensin-converting enzyme | ACE | Approved |
| beta-blockers | Binding to beta-adrenergic receptors to inhibit their activation | beta-adrenergic receptors | Approved |
Our Services
Our team of highly skilled scientists and researchers possesses extensive knowledge and experience in rare diseases, enabling us to offer guidance and support throughout the research process, including genetic analysis, the development of animal models, and therapeutic advancements for GSDIII.
Platforms of GSDIII Therapy Development
Animal Models of GSDIII
Animal models play a crucial role in understanding the pathogenesis of diseases and developing potential therapeutics. Our company provides a variety of animal models of GSDIII for you to investigate the underlying mechanisms, evaluate the efficacy and safety of interventions, and explore novel therapeutic approaches.
Genetic engineering techniques such as CRISPR/Cas9 have been employed to create animal models of GSDIII. These models involve modifying the animal's genome to introduce mutations in the AGL gene.
Optional Models: Agltm1a(EUCOMM)Wtsi model; Aglem1Cya model, etc.
Why Choose US?
By providing a comprehensive suite of services including pharmacokinetic studies and biosafety evaluation, we aim to deliver innovative solutions that accelerate scientific discoveries and improve individual outcomes.
If you are interested in learning more about our services and how we can support your research endeavors, please do not hesitate to reach out to us for further information.
References
- Wicker, Camille et al. "French recommendations for the management of glycogen storage disease type III." European journal of medical research 28.1 (2023): 253.
- Pursell, Natalie et al. "Inhibition of Glycogen Synthase II with RNAi Prevents Liver Injury in Mouse Models of Glycogen Storage Diseases." Molecular therapy: the journal of the American Society of Gene Therapy 26.7 (2018): 1771-1782.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.