Medical School

  • University of Miami Miller School of Medicine , 2002 , Miami , FL


  • Jackson Memorial Hospital/University of Miami , 2005 , Miami , FL


  • Jackson Memorial Hospital/University of Miami , 2007 , Miami , FL


Dr. Stephanie Sacharow is a medical geneticist experienced in the management of patients with metabolic disease including phenylketonuria. Dr. Sacharow 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 prior to getting her MD at the University of Miami Miller School of Medicine, and later joining the 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. Dr. Sacharow 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 clinic trials leading the PAL clinic at Boston Children's Hospital, and co-author of the management guidelines for pegvaliase. She provides medical management for a large number of adult patients with pegvaliase (Palynziq) in the PAL Clinic. She has been an invited speaker at national and international conferences to educate and share the BCH PAL program's experiences and practice improvements.


  • American Board of Medical Genetics and Genomics, Clinical Biochemical Genetics
  • American Board of Medical Genetics and Genomics, Clinical Genetics
  • American Board of Pediatrics, General Pediatrics


Publications powered by Harvard Catalyst Profiles

  1. Nutrition status of adults with phenylketonuria treated with pegvaliase. Mol Genet Metab. 2021 Aug; 133(4):345-351. View abstract
  2. Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. Mol Genet Metab Rep. 2021 Mar; 26:100703. View abstract
  3. First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. View abstract
  4. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet. 2019 06 06; 104(6):1223-1232. View abstract
  5. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 08; 21(8):1851-1867. View abstract
  6. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. . 2018 11; 176(11):2259-2275. View abstract
  7. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018 05; 57(5):223-230. View abstract
  8. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 04; 39(4):461-470. View abstract
  9. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View abstract
  10. Desmosterolosis presenting with multiple congenital anomalies. Eur J Med Genet. 2018 Mar; 61(3):152-156. View abstract
  11. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 04 06; 100(4):689. View abstract
  12. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 Feb 02; 100(2):352-363. View abstract
  13. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 05; 98(5):963-970. View abstract
  14. Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Mol Cytogenet. 2013 Sep 20; 6(1):38. View abstract
  15. Clinical comparison of overlapping deletions of 19p13.3. . 2013 May; 161A(5):1110-6. View abstract
  16. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. . 2013 Apr; 161A(4):822-8. View abstract
  17. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Mol Autism. 2012 Apr 02; 3:2. View abstract
  18. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. . 2012 Mar; 158A(3):547-52. View abstract
  19. Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One. 2011; 6(10):e26049. View abstract
  20. A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia. J Child Neurol. 2011 Aug; 26(8):1005-8. View abstract
  21. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. . 2011 Jun; 156B(4):493-501. View abstract
  22. A de novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Autism Res. 2011 Jun; 4(3):221-7. View abstract
  23. Variants in several genomic regions associated with asperger disorder. Autism Res. 2010 Dec; 3(6):303-10. View abstract
  24. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genet Med. 2009 Mar; 11(3):169-75. View abstract
  25. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Hum Mutat. 2007 Nov; 28(11):1124-32. View abstract
  26. Safeguarding packaged drugs from bacteria and mold attack. Pharm Weekbl. 1969 Apr 25; 104(17):341-5. View abstract
  27. Collapsible tubes for drugs and cosmetics. Pharm Weekbl. 1968 Nov 22; 103(47):1261-5. View abstract