Pitt Pediatrics congratulates Jerry Vockley, MD, PhD, FACMG, for his collaboration with a research group that earned the 2023 Emmanuel Shapira Award. This award was established in 2003 to recognize the most impressive paper published in Molecular Genetics and Metabolism (MGM) by a member of the Society for Inherited Metabolic Disorders (SIMD). The paper published was a multi-site effort led by Melanie Gillingham, PhD (Oregon Health & Science University), and included Vockley, James Delaney, PhD (Advent Health Research), Angela Horgan (Oregon Translational and Clinical Research Institute), Ashley Gregor (Oregon Health & Science University), and Cary Harding, MD (Oregon Health & Science University). 
The winning paper, titled, “Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs),” was featured in MGM in late January.
In this research study, the group investigated whether the energy expenditure among those with LC-FAODs was comparable to that of a normal population, as that is a relatively unexplored aspect of care for patients, but still a critical baseline for medical nutrition therapy to mantain anabolism and prevent catabolism. While current treatment in practice estimates energy needs based on formulas derived from typical populations, those assumptions may be inaccurate based on LC-FAOD patient needs.
To address this knowledge gap, the research team measured resting energy expenditure (REE), total energy expenditure (TEE) and body composition across 31 subjects with LC-FAODs ranging in age from 7 to 64 years.
Ultimately, measured REE and TEE both demonstrated significantly lower than estimated predictions in typical populations, while body composition between the two groups remained relatively similar. These results suggest patients with LC-FAODs exhibit lower overall TEE than estimated, implying that current prediction equations may overestimate energy expenditure and therefore nutritional needs for patients.
The Shapira Award was named in memory of Emmanuel Shapira, MD, PhD, one of the founders of SIMD, whose major clinical and research interests were focused on inborn errors of metabolism. This award is intended to recognize high-quality work in the field that he dedicated his life towards advancing.
Join us in congratulating Vockley and this research team on this wonderful work and award recognition. Follow Pitt Pediatrics on Twitter and Instagram for more updates on research from our Division of Genetic and Genomic Medicine.