Galactosemia
Galactosemia is a rare genetic metabolic disease. Our company is committed to developing cutting-edge diagnostics and therapeutics for the management of galactosemia. As your reliable partner in galactosemia research, we offer streamlined and comprehensive solutions to meet all your scientific research requirements.
Overview of Galactosemia
Galactosemia is a rare, inherited metabolic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and other dairy products. The disease causes galactose and its metabolites to accumulate in various tissues and organs, leading to potentially life-threatening complications. Galactosemia affects approximately 1 in 60,000 newborns.
Fig. 1 Galactose metabolic pathways and novel therapeutic approaches in classic galactosemia. (Delnoy, Britt, et al., 2021)Pathogenesis of Galactosemia
Galactosemia is primarily caused by genetic mutations that affect the production or function of enzymes involved in galactose metabolism. The three main types of galactosemia are classic galactosemia, clinical variant galactosemia, and biochemical variant galactosemia.
| Disease Types | Mutated Gene | Pathogenesis | Severity |
|---|---|---|---|
| Classic Galactosemia | GALT | The GALT gene encodes the enzyme galactose-1-phosphate uridylyltransferase (GALT) which plays a critical role in converting galactose-1-phosphate into glucose-1-phosphate in the liver. | Most severe |
| Clinical Variant Galactosemia | GALT | Individuals with clinical variant galactosemia have a partial deficiency of GALT, which leads to a less severe buildup of galactose-1-phosphate and galactitol. | Milder |
| Biochemical Variant Galactosemia | GALK1 | It is characterized by a deficiency of galactokinase, the enzyme responsible for converting galactose into galactose-1-phosphate. | Mildest |
Types of Galactosemia Therapy
Small Molecule Therapy
Small molecule therapeutics involve the development of pharmacological compounds that modulate specific targets or pathways involved in galactosemia. Currently, small molecule modulators are being investigated to enhance enzyme activity, reduce the accumulation of toxic metabolites, or mitigate the downstream effects of galactosemia.
Gene Therapy
Gene therapy holds promise as a potential long-term solution for Galactosemia. By introducing healthy copies of the affected genes, gene therapy aims to restore normal enzyme activity and enable proper galactose metabolism in individuals with Galactosemia. Preclinical studies using animal models have shown promising results.
Enzyme Replacement Therapy
Enzyme replacement therapy (ERT) involves the administration of exogenous enzymes to compensate for the deficiency or absence of the native enzymes. In the context of Galactosemia, exploring the feasibility of ERT for GALT and galactokinase deficiencies could potentially alleviate the metabolic imbalances and mitigate the symptoms of the condition.
Our Services
Our company leads the way in rare disease research and the development of therapeutics. With a team of experienced scientists and researchers, we have established advanced platforms dedicated to unraveling the complexities of rare diseases, including galactosemia.
Our research platforms
Our company is dedicated to offering diagnostic development services that facilitate early detection and precise diagnosis of galactosemia. Recognizing the significance of animal models in therapeutic drug development, we specialize in constructing galactosemia animal models. These models enable our customers to conduct drug safety evaluation and pharmacokinetics study on potential drug candidates.
Animal Models of Galactosemia
| Induced Models | |||
|---|---|---|---|
| Animal models of galactosemia can be induced by the administration of chemicals that disrupt galactose metabolism or inhibit specific enzymes. For example, the administration of a chemical inhibitor of GALT or galactokinase can lead to the accumulation of galactose and the manifestation of galactosemia-like symptoms in animals. | |||
| Dietary Intervention Models | |||
| Manipulating the diet of animals can also be an effective strategy for developing galactosemia animal models. By feeding animals a galactose-rich diet or restricting specific nutrients necessary for galactose metabolism, researchers can induce metabolic imbalances similar to those observed in individuals with galactosemia. | |||
| Genetically Engineered Models | |||
| Genetic manipulation techniques, such as gene knockout or knockdown, are commonly employed to develop animal models of galactosemia. By selectively modifying or deleting specific genes involved in galactose metabolism, researchers can mimic the enzyme deficiencies seen in human galactosemia. | |||
| Optional Models |
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| Optional Species | Mice, Rats, Rabbits, Zebrafish, Drosophila, Pigs, Others | ||
Our services encompass a wide range of offerings beyond those mentioned, ensuring comprehensive support for galactosemia research and therapeutics development. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- Delnoy, Britt, Ana I. Coelho, and Maria Estela Rubio-Gozalbo. "Current and future treatments for classic galactosemia." Journal of Personalized Medicine 11.2 (2021): 75.
- Succoio, Mariangela, et al. "Galactosemia: Biochemistry, molecular genetics, newborn screening, and treatment." Biomolecules 12.7 (2022): 968.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.