• English


Medical School

  • Albert Einstein College of Medicine , Bronx , NY


  • Floating Hospital for Children, Tufts Medical Center , Boston , MA


  • Boston Children's Hospital , Boston , MA


Dr. Amy Kritzer is an attending in the Division of Genetics and Genomics at Boston Children’s Hospital. She graduated from the Albert Einstein College of Medicine in Bronx, NY. She did her Pediatrics residency at The Floating Hospital for Children at Tufts Medical Center in Boston, MA and then completed fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. Her clinical work is focused on the care of children and adults with rare metabolic disorders. She serves as physician lead for Quality Improvement in the Division of Genetics. As QI lead, she creates and implements patient care initiatives designed to improve patient safety and patient and family experience. Her work is dedicated to addressing the psychosocial needs of patients with rare diseases with a focus on improving quality of life. She serves as a Principal Investigator for several lysosomal storage disease registries, as co-director of the BoLD lysosomal storage disease program at Boston Children’s and as one of the main physicians for the PAL clinic.


Publications powered by Harvard Catalyst Profiles

  1. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 Jul; 53(7):1006-1021. View abstract
  2. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 Jun 19. View abstract
  3. Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention. JIMD Rep. 2020 Sep; 55(1):44-50. View abstract
  4. First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. View abstract
  5. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784. View abstract
  6. Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555. View abstract
  7. Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism. Mol Genet Metab. 2020 01; 129(1):1-2. View abstract
  8. Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2019 Nov 13. View abstract
  9. Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. Mol Genet Metab Rep. 2019 Dec; 21:100530. View abstract
  10. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). View abstract
  11. Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. J Pediatr. 2018 11; 202:315-319.e2. View abstract
  12. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View abstract
  13. Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Cerebellum Ataxias. 2018; 5:5. View abstract