Laura Jaimes, MS, RD, LD, CNSC is a registered dietitian at Oregon Health and Science University in Portland, Oregon. She joined the field of metabolics a little over a year ago after working for several years in acute and long-term care. Laura primarily sees patients with phenylketonuria but has also enjoyed the challenge of working with inborn errors of carbohydrate metabolism.
Project Title: Impact of the Formula Shortage on Metabolic Dietitians and Patients with Inborn Errors of Metabolism
Description: In February of 2022, the plant shutdown of a major manufacturer of standard and specialized formulas, named Abbott, shocked the industry and exposed weaknesses in the supply chain. Many patients with inborn errors of metabolism (IEM), including phenylketonuria, could no longer obtain their preferred medical formulas and/or supplements. Despite U.S. government measures to prioritize ingredients for formula production and increase the import of medical formulas from overseas, patients with IEM continued to experience backorders and shortages of their primary formulas. The impact of the shortage on patient’s overall health and metabolic control is unknown, as well as the stress and added burden on metabolic dietitians. This study seeks to understand how the formula shortage has affected both patients with IEMs and metabolic dietitians to provide insight on how to better navigate and create strategies to prevent future shortages.
Marie Norris, MS, RDN, CD, CNSC is a Registered Dietitian and Ph.D. candidate in Nutrition and Integrative Physiology at the University of Utah. Years of clinical experience as a metabolic dietitian have fostered her passion to develop better treatments for patients suffering from inborn errors of metabolism. With a particular fondness for lipid metabolism, she is especially passionate about improving care for patients with long-chain fatty acid oxidation disorders (LC-FAODs). Marie’s research aims to uncover mechanisms of lipotoxic and energy-deficient heart failure in LC-FAODs using patient fibroblasts, patient plasma, LC-FAOD-induced rat cardiomyoblasts, and LC-FAOD mouse models.
Project Title: Ceramides in VLCADD-Induced Heart Failure
Description: Despite advances in newborn screening and treatment of patients with fatty acid oxidation disorders, patients with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) continue to experience heart failure, which ultimately causes their childhood death (75% child mortality rate in severe cases). Of the numerous lipids that accumulate in these disorders, ceramides are likely the most deleterious. Mounting evidence reveals that elevated ceramides contribute to heart failure in both humans and rodents, and that cardiac function improves with ceramide depletion. Owing to a strong association of plasma ceramides with major adverse cardiac events, the Mayo Clinic is now marketing tests to measure circulating ceramides as markers of cardiovascular mortality. This study will investigate whether plasma ceramides from VLCADD patients correlate with traditional indices of heart failure. This will be the first project investigating the role ceramides play in heart failure observed in VLCADD. As a bench-to-bedside project, my study will encourage providers to measure plasma ceramide concentrations as a marker of cardiovascular mortality in VLCADD patients, and lay the groundwork for the application of novel therapeutic strategies to treat patients with VLCADD.