Shop
Events
Donate

MitoAction

Support, Education, Outreach and Advocacy for Children and Adults Living with Mitochondrial Disease

Mitochondrial Disease
Fatty Acid Oxidation Disorders
- About FAODs
- FAOD Programs and Support
Programs & Support
Join the Cause
About Us
Show Search

Acylcarnitines: What are They and What Do They Mean?

View Presentation

About the Speaker

Dr. Melanie Gillingham

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders. In 2014, a group of FAO researcher’s under the leadership of Dr. Jerry Vockley founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). The INFORM continues to host annual science meetings and work on clinical trials and funding for projects within the group’s members.

Most recently, Drs. Vockley and Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham has recently been awarded an NIH grant to conduct a larger natural history study of LCHAD retinopathy with a goal of recruiting 44 subjects over the next 2 to 4 years from the INFORM network.