Current Environment: Production

Medical Services

Specialties

Programs & Services

Languages

  • English

Education

Medical School

Albert Einstein College of Medicine

Bronx, NY

Residency

Floating Hospital for Children, Tufts Medical Center

Boston, MA

Fellowship

Boston Children's Hospital

Boston, MA

Certifications

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

Professional History

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

  1. Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities. Genet Med. 2025 Apr 29; 101450. View Abstract

  2. Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. Neurology. 2025 Apr 08; 104(7):e213429. View Abstract

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

  4. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. Nat Commun. 2024 Aug 22; 15(1):7239. View Abstract

  5. Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet. Am J Med Genet A. 2024 Dec; 194(12):e63825. View Abstract

  6. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. Am J Hum Genet. 2024 07 11; 111(7):1352-1369. View Abstract

  7. Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program. Mol Genet Metab. 2024 May; 142(1):108350. View Abstract

  8. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv. 2024 Jan 31. View Abstract

  9. Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep. 2022 Dec; 33:100938. View Abstract

  10. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2023 01; 93(1):110-117. View Abstract

  11. A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive. Hum Mutat. 2022 04; 43(4):471-476. View Abstract

  12. Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center. Child Abuse Negl. 2022 03; 125:105480. View Abstract

  13. Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2021 Dec 01; 37(12):e1154-e1159. View Abstract

  14. MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. Hum Genet. 2022 Jan; 141(1):65-80. View Abstract

  15. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 07; 53(7):1006-1021. View Abstract

  16. Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. Am J Hum Genet. 2021 08 05; 108(8):1450-1465. View Abstract

  17. 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

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

  19. 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

  20. Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555. View Abstract

  21. 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

  22. 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

  23. 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

  24. 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

  25. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View Abstract

  26. Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Cerebellum Ataxias. 2018; 5:5. View Abstract
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