Research Overview

Dr. Kritzer has a deep commitment to improving the quality of care for patients with rare disease. Dr. Kritzer’s research centers around projects that integrate patient care, quality improvement, physician education and the psychosocial needs of patients and their families. Ongoing projects include improving communication among community physicians and academic medical centers, designing educational materials about rare disease, comprehensive assessment of the social and emotional needs of families, and building stronger communities between patients and providers. Additionally, she is the Principal Investigator for several Lysosomal Storage Disease registries. Dr. Kritzer is dedicated to helping people live well with rare and chronic diseases.

 

Research Background

Dr. Kritzer earned her MD from the Albert Einstein College of Medicine and a BA in Biology from Barnard College, Columbia University in New York. She completed a residency in Pediatrics at the Floating Hospital for Children at Tufts Medical Center and fellowships in Clinical Genetics and Medical Biochemical Genetics at Boston Children’s Hospital. She joined the faculty at Boston Children’s Hospital in 2016. Dr. Kritzer currently serves as the co-director of the BoLD Lysosomal Storage disease clinic at Boston Children’s and as the physician lead for Quality Improvement for the Division of Genetics and Genomics. She has a deep commitment to caring for individuals with complex medical needs and their families and serves as a member of the medical advisory council for Make-a-Wish of Massachusetts and Rhode Island. Dr. Kritzer was awarded the Genzyme/American College of Medical Genetics Foundation Fellowship for Biochemical Genetics and is a scholar member of the Boston Children’s Hospital Academy for Teaching and Educational Innovation and Scholarship. She is a full-time clinician with special focus on patients with Lysosomal Storage Diseases, Smith Lemli Opitz syndrome and other inborn errors of metabolism.

 

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

Publications

  1. A 4-Month-Old With Jaundice, Lethargy, and Emesis. Pediatrics. 2024 Oct 01; 154(4). View Abstract
  2. 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
  3. 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
  4. 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
  5. 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
  6. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. medRxiv. 2024 Jan 31. View Abstract
  7. Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep. 2022 Dec; 33:100938. View Abstract
  8. Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. Pediatr Res. 2023 01; 93(1):110-117. View Abstract
  9. 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
  10. Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center. Child Abuse Negl. 2022 03; 125:105480. View Abstract
  11. Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. Pediatr Emerg Care. 2021 Dec 01; 37(12):e1154-e1159. View Abstract
  12. 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
  13. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet. 2021 07; 53(7):1006-1021. View Abstract
  14. 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
  15. 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
  16. First 1.5 years of pegvaliase clinic: Experiences and outcomes. Mol Genet Metab Rep. 2020 Sep; 24:100603. View Abstract
  17. 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
  18. Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. Mol Genet Metab Rep. 2020 Mar; 22:100555. View Abstract
  19. 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
  20. 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
  21. 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
  22. 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
  23. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. View Abstract
  24. Cerebellar cognitive affective syndrome: insights from Joubert syndrome. Cerebellum Ataxias. 2018; 5:5. View Abstract

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