Despite advances in newborn screening and treatment of fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to suffer from heart failure. Marie Norris will discuss her preliminary data which suggests that lipotoxicity, largely mediated by the accumulation of ceramides, is a major contributor to VLCADD-induced heart failure. Ms. Norris will discuss the role of ceramides, while addressing the mounting evidence that elevated ceramides contribute to heart failure in humans/rodents and that cardiac function improves with ceramide depletion.
The underlying cause of LCHADD retinopathy is not fully understood. This presentation will look at the research that identifies the cell in the eye...
Organizations share what they have planned for the next 12 months. The annual town meeting is our way of kicking off the new year...
How can a service dog help a child or adult patient with mitochondrial disease? Learn more and ask questions, such as: How can service...