Inborn Errors of Metabolism | CHOP Research Institute

Inborn Errors of Metabolism

Providing cutting-edge molecular therapies for patients with inborn errors of metabolism in a first of its kind, word-class clinic.

Dr. Edmondson is an attending physician with the Metabolic Disease Program and the Division of Human Genetics at CHOP, and an assistant professor of Pediatrics in the Perelman School of Medicine at the University of Pennsylvania. His research focuses on the study of glycosylation in the brain.

edmondsona [at]
Published on
May 10, 2021
Meet our featured Faculty Spotlight scientist for May, Rebecca Ahrens-Nicklas, MD, PhD, assistant professor of Pediatrics at CHOP.

This is an intergrated study of patients with congenital glycosylation disorder.

Dr. Krivitzky's research focuses on cognitive, behavioral, and social outcomes in pediatric stroke and related vascular conditions. She also has an interest in studying outcomes in children and adults with inborn errors of metabolism.

krivitzkyl [at]

Dr. Master works to understand the biochemical pathways related to inborn errors of metabolism, particularly as they relate to mitochondrial function. He also focuses on bioinformatics and machine learning solutions to problems in mass spectrometry and laboratory medicine.

masters [at]

The Ahrens-Nicklas lab combines translational studies in patients with molecular, biochemical, and electrophysiologic studies working with animal models to develop novel therapies for rare inherited pediatric disorders.

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

ahrensnicklasr [at]