Current Environment: Production

Stephanie Sacharow | Education

Medical School

University of Miami Miller School of Medicine

2002, Miami, FL

Residency

Jackson Memorial Hospital/University of Miami

2005, Miami, FL

Fellowship

Jackson Memorial Hospital/University of Miami

2007, Miami, FL

Stephanie Sacharow | Certifications

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

Stephanie Sacharow | Professional History

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.

Stephanie Sacharow | Publications

  1. Phenylketonuria in adults: we know plenty, but there is much more to learn. Am J Clin Nutr. 2025 Mar; 121(3):741-743. View Phenylketonuria in adults: we know plenty, but there is much more to learn. Abstract

  2. Lessons learned from 5 years of pegvaliase in US clinics: A case series. Mol Genet Metab Rep. 2025 Mar; 42:101181. View Lessons learned from 5 years of pegvaliase in US clinics: A case series. Abstract

  3. Patient voices on PKU care: Insights from focus groups with current and former patients. Mol Genet Metab Rep. 2024 Dec; 41:101148. View Patient voices on PKU care: Insights from focus groups with current and former patients. Abstract

  4. A 4-Month-Old With Jaundice, Lethargy, and Emesis. Pediatrics. 2024 Oct 01; 154(4). View A 4-Month-Old With Jaundice, Lethargy, and Emesis. Abstract

  5. Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening. Am J Med Genet C Semin Med Genet. 2024 Nov; 196(2-3):e32110. View Perspectives and Insights Into Phenylketonuria: Patient Narratives About the Early Years Following Newborn Screening. Abstract

  6. Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. Am J Med Genet C Semin Med Genet. 2024 Nov; 196(2-3):e32111. View Perspectives and Insights Into Phenylketonuria: Provider Narratives About the Early Years Following Newborn Screening. Abstract

  7. Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108541. View Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency. Abstract

  8. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218. View Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Abstract

  9. The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening. Mol Genet Metab Rep. 2024 Sep; 40:101099. View The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening. Abstract

  10. Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program. Mol Genet Metab Rep. 2024 Jun; 39:101084. View Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program. Abstract

  11. Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population. Genet Med Open. 2024; 2:100841. View Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population. Abstract

  12. Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study. Mol Genet Metab Rep. 2023 Dec; 37:101015. View Nutritional status of adults with phenylketonuria on pegvaliase: A 15-month prospective study. Abstract

  13. Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Mol Genet Metab. 2023 07; 139(3):107626. View Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. Abstract

  14. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839. View LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Abstract

  15. Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox. Mol Genet Metab. 2023 05; 139(1):107579. View Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox. Abstract

  16. Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Nat Metab. 2022 Sep; 4(9):1214. View Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Abstract

  17. Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Brain. 2022 08 27; 145(8):2687-2703. View Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. Abstract

  18. Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):104-106. View Pegvaliase dosing in adults with PKU: Requisite dose for efficacy decreases over time. Abstract

  19. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Mol Genet Metab. 2022 Sep-Oct; 137(1-2):114-126. View Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach. Abstract

  20. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022 09; 188(9):2750-2759. View Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Abstract

  21. Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. Mol Genet Metab Rep. 2021 Sep; 28:100790. View Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. Abstract

  22. Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Nat Metab. 2021 08; 3(8):1125-1132. View Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. Abstract

  23. Nutrition status of adults with phenylketonuria treated with pegvaliase. Mol Genet Metab. 2021 08; 133(4):345-351. View Nutrition status of adults with phenylketonuria treated with pegvaliase. Abstract

  24. Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. Mol Genet Metab Rep. 2021 Mar; 26:100703. View Hereditary orotic aciduria (HOA): A novel uridine-5-monophosphate synthase (UMPS) mutation. Abstract

  25. First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. View First 1.5 years of pegvaliase clinic: Experiences and outcomes. Abstract

  26. Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Am J Hum Genet. 2019 06 06; 104(6):1223-1232. View Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome. Abstract

  27. Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genet Med. 2019 08; 21(8):1851-1867. View Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Abstract

  28. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Am J Med Genet A. 2018 11; 176(11):2259-2275. View Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Abstract

  29. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018 05; 57(5):223-230. View Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Abstract

  30. 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 MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Abstract

  31. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 03; 123(3):317-325. View Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Abstract

  32. Desmosterolosis presenting with multiple congenital anomalies. Eur J Med Genet. 2018 Mar; 61(3):152-156. View Desmosterolosis presenting with multiple congenital anomalies. Abstract

  33. 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 De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Abstract

  34. 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 De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Abstract

  35. 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 De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Abstract

  36. 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 Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. Abstract

  37. Clinical comparison of overlapping deletions of 19p13.3. Am J Med Genet A. 2013 May; 161A(5):1110-6. View Clinical comparison of overlapping deletions of 19p13.3. Abstract

  38. Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Am J Med Genet A. 2013 Apr; 161A(4):822-8. View Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype. Abstract

  39. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Mol Autism. 2012 Apr 02; 3:2. View Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci. Abstract

  40. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet A. 2012 Mar; 158A(3):547-52. View Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Abstract

  41. Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. PLoS One. 2011; 6(10):e26049. View Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. Abstract

  42. 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 A novel sporadic 614-Kb duplication of the 22q11.2 chromosome in a child with amyoplasia. Abstract

  43. Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. Am J Med Genet B Neuropsychiatr Genet. 2011 Jun; 156B(4):493-501. View Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21. Abstract

  44. 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 A de novo 1.5?Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis. Abstract

  45. Variants in several genomic regions associated with asperger disorder. Autism Res. 2010 Dec; 3(6):303-10. View Variants in several genomic regions associated with asperger disorder. Abstract

  46. Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Genet Med. 2009 Mar; 11(3):169-75. View Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment. Abstract

  47. 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 Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. Abstract

  48. Safeguarding packaged drugs from bacteria and mold attack. Pharm Weekbl. 1969 Apr 25; 104(17):341-5. View Safeguarding packaged drugs from bacteria and mold attack. Abstract

  49. Collapsible tubes for drugs and cosmetics. Pharm Weekbl. 1968 Nov 22; 103(47):1261-5. View Collapsible tubes for drugs and cosmetics. Abstract

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