Galactosemia
Galactosemia falls under the blanket of rare genetic metabolic disorders. Our company is focused on developing diagnostic and therapeutic approaches to manage galactosemia effectively. We can help your organization by providing solutions to your entire scientific research needs, helping you conduct the research more efficiently.
Overview of Galactosemia
As previously mentioned, galactosemia is an uncommon, inherited condition where the body's metabolism of galactose, a sugar found in dairy foods, is impaired. This condition leads to accumulation of galactose and its metabolites in various tissues and organs, which may lead to potentially life threatening complications. This condition affects roughly 1 in every 60,000 infants born in the United States.
Fig. 1 Galactose metabolic pathways and novel therapeutic approaches in classic galactosemia. (Delnoy, Britt, et al., 2021)Pathogenesis of Galactosemia
The more complex form of the disease is primarily due to genetic changes that prevent either the production of, or the functional activity of several enzymes that are responsible for the metabolism of galactose. The three subtypes of galactosemia include 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 therapy is a new class of therapeutics which involve the design of new pharmacological compounds that target selective dysfunctions systems or pathways in galactosemia. Currently, small molecule modulators are being developed to stimulate enzyme activity, preventing toxic metabolites from accumulating, or dampening the effects of galactosemia.
Gene Therapy
As a potential long-term solution for Galactosemia, gene therapy has promise. Preclinical studies conducted on animal models have been beneficial. Gene therapy aims to fix the normal enzyme activity by introducing healthy copies of the affected genes, and allowing proper galactose metabolism.
Enzyme Replacement Therapy
Exogenous enzymes are administered to patients in ERT to make up for the deficient or non-existent native enzymes. There are exploitable ERT possibilities for GALT and galactokinase deficiencies, which could then help reduce the metabolic imbalances resulting from Galactosemia and even help with the condition symptoms.
Our Services
We aim to always be at the forward edge of rare diseases and their therapeutics, which is the reason why our company is now involved with specialized scientists and researchers who focus on the development and further analysis of rare diseases platforms and Galactosemia.
Our research platforms
Our company custom diagnostic development for the diagnosis of galactosemia facilitating its early detection and accurate diagnosis. We understand the importance of animal models for the development of therapeutic medicines, and we develop animal models of galactosemia for our customers to use in drug safety evaluation and pharmacokinetics study for new 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 |
|
|
|
| Optional Species | Mice, Rats, Rabbits, Zebrafish, Drosophila, Pigs, Others | ||
More services that pertain to the research and development of therapy for galactosemia are available, alongside those previously discussed. 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.