Inherited Metabolic Disorders
Inherited metabolic disorders, also known as inborn errors of metabolism, are a complex group of genetic disorders resulting from defects in enzymes or other proteins crucial for breaking down food components into usable energy. Within the realm of rare diseases, our company stands out by offering tailored and comprehensive services to researchers and scientists in the domain of inherited metabolic disorders.
Overview of Inherited Metabolic Disorders
Inherited metabolic disorders encompass a wide range of disorders, including but not limited to phenylketonuria, maple syrup urine disease, Gaucher disease, Fabry disease, and many others. Symptoms can vary widely depending on the specific disorder but may include developmental delays, seizures, intellectual disabilities, organ dysfunction, and metabolic crises. Symptoms may present in infancy, childhood, or even adulthood depending on the 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
Typically, inherited metabolic disorders follow an autosomal recessive inheritance pattern, necessitating both parents to transmit a faulty gene for the disorder to manifest. These disorders stem from mutations in genes responsible for encoding enzymes or proteins involved in metabolic pathways, leading to disruptions in normal metabolic processes. The build-up of toxic substances can cause damage to various organs and tissues, resulting in the characteristic symptoms 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
Metabolic testing, which involves blood and urine tests to measure levels of specific metabolites indicative of an inherited metabolic disorder, as well as enzyme assays to evaluate enzyme activity.
- Genetic Testing
Genetic testing is another essential tool for identifying mutations linked to inherited metabolic disorders, aiding in confirming the diagnosis and understanding the underlying genetic basis of the disorder.
Fig.3 The current diagnostic procedure of inherited metabolic disorders. (Slenter, D. N., et al., 2023)Therapeutics Development of Inherited Metabolic Disorders
Gene therapy is a promising approach for treating inherited metabolic disorders, this innovative therapy involves introducing functional copies of the defective gene into the individual's cells, either through viral vectors or other delivery methods. The following are advances in gene therapy for 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
We understand the unique challenges associated with studying and addressing rare diseases. Our animal models and therapeutic development platform, enable us to provide specialized support throughout the research process.
Therapeutics Development Platforms
Animal Models of Inherited Metabolic Disorders
Animal models are crucial for studying and understanding inherited metabolic disorders and provide valuable insights into the pathogenesis of inherited metabolic disorders. Our company offers a variety of animal models to help researchers investigate disease mechanisms, develop therapies, and assess therapy efficacy.
Genetic engineering models involve the use of transgenic technology or gene-editing technologies like CRISPR/Cas9 to introduce gene mutations associated with specific inherited metabolic disorders in animals.
Optional Models: ARG1-deficient model; OTC-deficient model, etc.
Why Choose Us
From access to comprehensive databases and literature reviews to advanced laboratory facilities and cutting-edge technologies, we offer a range of services including pharmacokinetic studies and drug safety evaluations.
To embark on a journey of collaboration and exploration, connecting with our team promises a synergistic blend of expertise and resources, propelling your research toward success.
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.