Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Long-chain fatty acid oxidation disorders (LC-FAOD) are a complex group of genetic metabolic disorders characterized by deficiencies in enzymes essential for breaking down long-chain fatty acids. These disorders represent a significant area of focus for our distinguished company specializing in rare diseases. We offer comprehensive one-stop services that cater to the unique needs of researchers and scientists in this field.
Overview of LC-FAOD
LC-FAOD manifests in individuals who have inherited two copies of the defective gene – one from each parent, resulting in an autosomal recessive pattern of inheritance. The overall incidence of these disorders is estimated to be approximately 1 in 9300 individuals. Symptoms typically appear in early childhood, although there are instances where certain forms of LC-FAOD may present later in life. The manifestations and severity of symptoms can vary depending on the specific type and severity of the enzyme deficiency.
Fig.1 Summary of select LC-FAOD. (Vockley J., 2020)Pathogenesis of LC-FAOD
Long-chain fatty acids are critical energy sources for tissues in the body, especially the heart, muscles, and liver. In individuals with LC-FAOD, the deficient enzyme hampers the breakdown of long-chain fatty acids into acetyl-CoA, disrupting the normal energy production process. This disruption leads to an accumulation of fatty acid metabolites and a shortage of energy substrates, ultimately culminating in metabolic crises and tissue damage.
Fig.2 Metabolism of long-chain fatty acids. (Vockley J., 2020)Diagnostics Development of LC-FAOD
Biochemical tests
Biochemical tests can identify abnormalities associated with impaired fatty acid oxidation. such as low blood glucose levels, elevated liver enzymes, heightened levels of fatty acid metabolites, and decreased carnitine levels.
Gene Detection
Genetic testing can identify mutations in the genes responsible for the enzyme deficiencies. This testing can be performed through different methods: targeted gene sequencing, next-generation sequencing, and Sanger sequencing.
Therapeutics Development of LC-FAOD
| Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|
| Triheptanoin | Reduce the reliance on long-chain fatty acids as an energy source | Heptanoate fatty acids | Approved |
| Bezafibrate | A PPAR agonist that increases expressions of FAO genes | PPAR | Phase I trials |
| REN001 | A selective PPARγ agonist | PPARγ | Phase I trials |
Our Services
Our advantages lie in our deep expertise and understanding of rare diseases, including the pathogenesis, diagnosis, and therapy progress of LC-FAOD. Leveraging our sophisticated animal models and cutting-edge therapeutic development platform, we are dedicated to facilitating and expediting research efforts focused on these rare disorders.
Therapy Development Platforms
Animal Models of LC-FAOD
Animal models serve as invaluable tools in advancing scientific knowledge and exploring potential therapies for LC-FAOD. Our company provides a diverse array of animal models that enable researchers to delve into the pathogenesis of these disorders, assess potential therapeutics, and innovate novel therapeutic strategies.
Chemical-induced Models
Chemical-induced animal models of LC-FAOD involve the administration of specific chemicals or drugs that disrupt fatty acid metabolism, leading to metabolic abnormalities similar to those observed in human individuals.
Optional Models: Fatty acid-induced model; Etomoxir-induced model, etc.
Genetically Engineered Models
Genetic engineering techniques such as CRISPR/Cas9 have created animal models of LC-FAOD. These models involve the introduction of genetic mutations or modifications to mimic the enzyme deficiencies observed in human individuals.
Optional Models: CPT1A mutation model; HADHA mutation model, etc.
Why Choose Us
Our company stays at the forefront of advancements in LC-FAOD research and regularly updates our services to ensure that our clients have access to the latest breakthroughs and developments. We provide a wide range of resources and support, including pharmacokinetic study and drug safety evaluation.
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
- Vockley, Jerry. "Long-chain fatty acid oxidation disorders and current management strategies." The American journal of managed care 26.7 (2020): S147-S154.
- Baker, Joshua J, and Barbara K Burton. "Diagnosis and Clinical Management of Long-chain Fatty-acid Oxidation Disorders: A Review." TouchREVIEWS in endocrinology 17.2 (2021): 108-111.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.