Stephanie Sacharow, MD

Medical Advisor

Dr. Stephanie Sacharow is a medical biochemical geneticist experienced in the management of patients with metabolic disease including phenylketonuria. She is the medical director of the PAL clinic at Boston Children's Hospital and the director of the Dr. Harvey Levy Program for Phenylketonuria and Related Conditions. She studied Neuroscience at Vanderbilt University, then attended the University of Miami Miller School of Medicine and later joined their faculty. She is board-certified in Medical Genetics, Medical Biochemical Genetics and Pediatrics. She was involved with the implementation and execution of expanded newborn screening for metabolic disease in South Florida for 10 years and was recruited to Boston Children’s Hospital/Harvard Medical School in 2015.

Dr. Sacharow has published numerous articles and is co-investigator in multiple clinical trials for phenylketonuria and homocystinuria. She has expertise in the management of patients with pegvaliase (Palynziq), having been an investigator in the clinical trials, and provides medical management for a large number of adult patients with pegvaliase. Dr. Sacharow is co-author of management guidelines for pegvaliase and has been an invited speaker at national and international conferences to educate and share the PAL program's experiences and practice improvements.