Inherited Metabolic Disorders
Also referred to as inborn errors of metabolism, inherited metabolic disorders encompass a group of disorders characterized by defects in enzymes of other proteins that are vital in metabolizing food for energy. Within the realm of rare diseases, our firm excels in providing fit–for–purpose and fully integrated services to researchers and scientists working on inherited metabolic disorders.
Overview of Inherited Metabolic Disorders
Inherited metabolic disorders consist of a number of disorders such as phenylketonuria, maple syrup urine disease, Gaucher disease, Fabry disease, etc. The range of symptoms is extensive in most cases, developmental disorders, seizures, intellectual disabilities, organ system failures, and even severe metabolic crises are among the possible issues. Symptoms may appear during infancy or childhood and in some cases even in adulthood depending on the specific disorder and its severity.
Fig.1 Overview of biochemical interactions involved in inherited metabolic disorders. (Slenter, D. N., et al., 2023)Pathogenesis of Inherited Metabolic Disorders
In most cases, inherited metabolic disorders will follow a specific pattern of inheritance referred to as autosomal recessive, which means that both parents must contribute a copy of the gene that carries a mutation for the disorder to become manifest. The metabolic disorders result from mutations within the genes that code for enzymes and other proteins that participate in the metabolic activities of the body which ultimately interfere with the normal metabolism of the body. The excessive accumulation of harmful material can injure one or more organ systems causing the unique manifestations of the specific disorder.
Fig.2 Gene therapy for inherited metabolic disorders. (Baruteau, J., et al., 2024)
Diagnostics Development of Inherited Metabolic Disorders
- Metabolic Testing
This type of test is carried out through blood and urine samples where the concentration of certain metabolites suggestive of the presence of an inherited metabolic disorder is quantified along with an assessment of particular enzyme functions.
- Genetic Testing
This is another crucial procedure for diagnosis as it enables one to trace the presence of a mutation for an inherited metabolic disorder which assists in making the diagnosis or clarifying the nature of the condition at hand.
Fig.3 The current diagnostic procedure of inherited metabolic disorders. (Slenter, D. N., et al., 2023)Therapeutics Development of Inherited Metabolic Disorders
For gene therapy to effectively enable treatment of an inherited metabolic disorder, it is necessary to insert functional versions of the defective gene into a patient's cell using viral vectors or other means. There have been developments in gene therapy techniques aimed at curing some inherited metabolic liver diseases.
| Disease Types | Therapy Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Urea cycle disorders | scAAV8OTC | Provide stable OTC expression and activity | OTC | Phase III trials |
| BGT-OTCD | Provide stable OTC expression and activity | OTC | Phase I/II trials | |
| Organic acidemia | LNP-mRNA-3705 | Promote MUT expression | MUT | Phase I/II trials |
| PARAMOUNT | PCCA and PCCB gene stimulants | PCCB | Phase I/II trials | |
| Wilson disease | VTX-801 | ATP7B gene stimulants | ATP7B | Phase I/II trials |
| UX701 | Promote ATP7B expression | ATP7B | Phase II trials | |
| Glycogen storage diseases Type 1a | rAAV-G6PC | Provide G6PC expression and activity | G6PC | Phase I/II trials |
Our Services
Dealing with an uncommon disease is quite challenging in and of itself, but we are aware that it is difficult for researchers to study and develop remedies for it. We can assist with the research through our animal models and therapeutic development platform.
Therapeutics Development Platforms
Animal Models of Inherited Metabolic Disorders
Animal models of metabolic disorders allow investigations into the pathogenesis of these disorders. Animal models are important in the study of inheritance, metabolic, and other transformed research. Our Company is pleased to provide important models for researchers to design therapies and evaluate their effectiveness.
Genetic engineering models involve the use of transgenic technology or gene-editing technologies to introduce gene mutations associated with specific inherited metabolic disorders in animals.
Optional Models: ARG1-deficient model; OTC-deficient model, etc.
Why Choose Us
Pharmacokinetic, drug safety evaluations, and other services including database access and literature reviews, comprehensive analysis, advanced laboratories, and other modern technologies aid us in perfecting our strategies.
If you are interested in our services, please feel free to contact us for more details and quotation information for related services.
References
- Slenter, Denise N et al. "Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations." Orphanet journal of rare diseases 18.1 (2023): 95.
- Baruteau, Julien et al. "Liver-directed gene therapy for inherited metabolic diseases." Journal of inherited metabolic disease 47.1 (2024): 9-21.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.