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
Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities. View Abstract
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders. View Abstract
A 4-Month-Old With Jaundice, Lethargy, and Emesis. View Abstract
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. View Abstract
Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet. View Abstract
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response. View Abstract
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. View Abstract
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy. View Abstract
Reinstitution of pegvaliase therapy during lactation. View Abstract
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. View Abstract
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive. View Abstract
Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center. View Abstract
Emergency Laboratory Evaluations for Patients With Inborn Errors of Metabolism. View Abstract
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects. View Abstract
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. View Abstract
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders. View Abstract
Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic intervention. View Abstract
First 1.5 years of pegvaliase clinic: Experiences and outcomes. View Abstract
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. View Abstract
Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report. View Abstract
Quality improvement: The tools we need to improve care for patients with inborn errors of metabolism. View Abstract
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. View Abstract
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. View Abstract
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. View Abstract
Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. View Abstract
Cerebellar cognitive affective syndrome: insights from Joubert syndrome. View Abstract
