Glycogen Storage Disease Type Ia (GSDIa)
Glycogen storage disease type Ia (GSDIa), also known as von Gierke disease, is an inherited metabolic disorder characterized by the deficiency of glucose-6-phosphatase enzyme activity. Our company is at the forefront of advancements in rare diseases, including GSDIa. We specialize in providing comprehensive one-stop services tailored to the needs of researchers and scientists in this field.
Overview of GSDIa
Glycogen storage disease type Ia is a rare autosomal recessive with a prevalence of less than one in 50,000. This glucose-6-phosphatase enzyme plays a crucial role in glucose metabolism, specifically in the final step of gluconeogenesis and glycogenolysis. The deficiency of glucose-6-phosphatase leads to impaired glucose homeostasis and abnormal glycogen storage in various organs, particularly the liver and kidneys.
Fig.1 Structural prediction results of G6PC protein before and after mutation. (Dan, L., et al., 2023)Pathogenesis of GSDIa
In GSDIa, the deficiency of glucose-6-phosphatase enzyme activity results in the inability of cells to convert glucose-6-phosphate into glucose, reducing the ability to produce glucose from non-carbohydrate sources. As a result, individuals with GSDIa experience hypoglycemia (low blood sugar) and an overproduction of glycogen in the liver and kidneys. Excessive glycogen accumulation leads to hepatomegaly (enlarged liver) and renomegaly (enlarged kidneys).
Fig.2 Consequences of defective glucose-6-phosphatase. (Derks, T. G. J., et al., 2021)Therapeutics Development of GSDIa
Small Molecule Drug Therapy
Individuals afflicted with GSDIa necessitate additional medications to mitigate various symptoms. Notably, the utilization of drugs like allopurinol can play a pivotal role in the reduction of uric acid levels, thereby ameliorating the likelihood of kidney stones and gout formation in affected individuals.
Gene Therapy
Infusion of AAV vectors carrying the G6PC gene can restoration of glucose homeostasis and improve liver size. Additionally, the development of gene editing technologies, such as CRISPR/Cas9, provides potential avenues for precise correction of the G6PC gene mutation in GSDIa.
Our Services
From access to cutting-edge animal models, including genetically modified mice and zebrafish, to state-of-the-art laboratory facilities equipped with advanced technologies, and innovative therapeutic development platforms, we provide researchers with the necessary tools and resources to conduct groundbreaking studies on GSDIa.
Therapeutics Development Platforms
Animal Models of GSDIa
Animal models play a crucial role in studying and understanding human diseases, including GSDIa. Our company provides you with a variety of animal models to investigate disease mechanisms, explore novel therapy strategies, and assess the long-term effects of interventions.
Chemical-induced Models
Chemical-induced animal models of GSDIa involve the administration of specific chemicals that disrupt glucose metabolism, leading to glycogen accumulation and manifestation of GSDIa-like symptoms.
Optional Models: 6-aminonicotinamide-induced model, etc.
Genetically Engineered Models
Genetic engineering models involve the manipulation of specific genes associated with GSDIa to create animal models that mimic the genetic deficiency of glucose-6-phosphatase enzyme activity seen in humans.
Optional Models: Gaatm1Rabn model; Gaaem1Jhng model, etc.
Why Choose Us
Our team of experienced professionals, including geneticists, molecular biologists, and technicians, offer comprehensive services including pharmacokinetic study and biosafety evaluation, ensuring seamless collaboration and knowledge exchange.
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
- Derks, Terry G J et al. "Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs." Nutrients 13.11 (2021): 3828.
- Dan, Lingying et al. "A case of glycogen storage disease type Ia with gout as the first manifestation." Medical sciences 52.2 (2023): 230-236.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.