Inquiry

Fatty Acid Oxidation Disorders

Fatty Acid Oxidation Disorders (FAODs) are inherited metabolic conditions caused by defects in mitochondrial β-oxidation processes. This impairment disrupts energy production while allowing toxic metabolic intermediates to accumulate. These disorders present notable diagnostic complexities and demand targeted research strategies for therapeutic development. Protheragen provides end-to-end preclinical solutions specifically designed for FAOD studies, encompassing disease mechanism modeling through comprehensive therapeutic assessment protocols.

Overview of Fatty Acid Oxidation Disorders

Fatty Acid Oxidation Disorders are autosomal recessive conditions that disrupt the body's ability to convert fats into energy, particularly during periods of fasting or increased energy demand. The clinical spectrum ranges from severe neonatal presentations to milder adult-onset forms, with manifestations including hypoketotic hypoglycemia, cardiomyopathy, skeletal myopathy, hepatic dysfunction, and sudden death.

Our services focus on the most clinically significant FAOD subtypes:

• Medium-chain acyl-CoA dehydrogenase deficiency (MCAD): The most common FAOD, presenting with vomiting, lethargy, hepatomegaly, and life-threatening metabolic crises during catabolic stress
• Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD): Associated with cardiac and hepatic involvement in infancy or exercise-induced rhabdomyolysis in older patients
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD): Characterized by retinopathy, peripheral neuropathy, and recurrent rhabdomyolysis
• Carnitine palmitoyltransferase deficiencies (CPT1/CPT2): Presenting as hepatic encephalopathy (CPT1) or muscle pain and myoglobinuria (CPT2)

The complex pathophysiology of FAODs—involving energy depletion, lipotoxicity, and multi-organ dysfunction—demands specialized research models and analytical approaches that accurately recapitulate human disease mechanisms.

Genetic Characteristics of FAODs

FAODs are primarily inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene (one from each parent) to develop the disorder. Genetic mutations in specific enzymes involved in fatty acid metabolism, such as ACADM for MCAD deficiency, HADHA for LCHAD deficiency, and ACADVL for VLCAD deficiency, are the underlying causes of these conditions. These mutations disrupt the normal metabolic pathways, leading to the accumulation of toxic intermediates and impaired energy production.

Clinical Pain Points and Research Needs

Despite advances in newborn screening and genetic testing, FAODs remain challenging to manage due to their variable presentations and potential for severe complications. Current treatments, such as dietary modifications and carnitine supplementation, are often insufficient to prevent metabolic crises and long-term organ damage. The development of more effective therapies, including gene therapy and targeted small molecules, is crucial to improving outcomes for patients with FAODs. However, the rarity and complexity of these disorders necessitate specialized preclinical models and research tools to accelerate therapeutic development.

Our Services

Protheragen is committed to advancing research and development in amino acid metabolism defects, offering a comprehensive suite of services tailored to support the unique challenges of these disorders.

Fatty acid oxidation disorders are complex and potentially life-threatening conditions that require specialized preclinical research and development efforts. Protheragen is at the forefront of FAOD research, offering a wide range of services tailored to address the unique challenges of these disorders. By working closely with scientists and pharmaceutical companies, we aim to accelerate the development of innovative therapies and improve outcomes for patients affected by these rare metabolic disorders. If you are interested in our services or would like to collaborate on FAOD research, please contact us for more information and a detailed quote.

References

• Merritt JL 2nd.; et al. Clinical manifestations and management of fatty acid oxidation disorders. Rev Endocr Metab Disord. 2020;21(4):479-493.
• Vianey-Saban C.; et al. Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges. J Inherit Metab Dis. 2023;46(5):848-873.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

• About Rare Metabolic Diseases
• Carbohydrate Metabolism Disorders
• Amino Acid Metabolism Defects
• Mitochondrial Disorders
• Lysosomal Storage Disorders
• Diagnostics Development for Rare Metabolic Diseases
• Disease Model Construction for Rare Metabolic Diseases
• Drug Screening and Evaluation for Rare Metabolic Diseases
• Pharmacokinetics Studies for Rare Metabolic Diseases
• Toxicology Studies for Rare Metabolic Diseases