Scholars@Duke
Sarah Phyllis Young

Sarah Phyllis Young

Professor of Pediatrics
Pediatrics, Medical Genetics
sarah.young@duke.edu
Box 103856, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Overview

As a clinical biochemical geneticist and a director of the Duke Biochemical Genetics laboratory, my research interests are focused on improving laboratory diagnostics for rare inherited disorders of metabolism. I am actively involved in the development of assays using mass spectrometry and other analytical techniques. My current research on biomarkers for lysosomal storage disorders, such as Fabry and Pompe disease and the mucopolysaccharidoses includes monitoring the response to novel therapies in patients. I also have an interest in neurometabolic disorders such as the creatine deficiency syndromes and sulfite oxidase and molybdenum cofactors. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine. Guanidinoacetate methyltransferase deficiency is a disorder that can be detected in the newborn period and is amenable to dietary therapy, and is thus a good candidate for newborn screening.

Current Appointments & Affiliations

Professor of Pediatrics · 2021 - Present Pediatrics, Medical Genetics, Pediatrics

Recent Publications

Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease

Journal Article Genetics in Medicine Open · January 1, 2026 Purpose: To assess the benefits of early enzyme replacement therapy (ERT) in patients with infantile-onset Pompe disease (IOPD). Methods: A retrospective chart review of 17 IOPD (7 cross-reactive immunologic material [CRIM]-negative and 10 CRIM positive) w ... Full text Cite

Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.

Journal Article Genet Med · December 2025 PURPOSE: This study details the long-term clinical outcomes in adult participants with CRIM-positive infantile-onset Pompe disease treated with enzyme replacement therapy (ERT), initially reported in 2012 (n = 11). METHODS: Medical records were reviewed fo ... Full text Link to item Cite

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.

Journal Article Mol Genet Metab Rep · December 2025 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is a rare autosomal recessive metabolic disease caused by variants in the HMGCL gene leading to an impairment in leucine catabolism and ketone synthesis. In the United States, HMG-CoA lyase deficien ... Full text Open Access Link to item Cite
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Recent Grants

Skeletal muscle-targeted gene therapy for Pompe disease

ResearchCo Investigator · Awarded by National Institutes of Health · 2025 - 2030

Combination Gene Therapy for Treatment of Canine Mucopolysaccharidosis Type I

ResearchPrincipal Investigator · Awarded by Childrens Hospital of Orange County · 2023 - 2028

Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases

ResearchInvestigator · Awarded by University of California - San Francisco · 2022 - 2026

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Education, Training & Certifications

American Board of Medical Genetics and Genomics · 2016 C.
University College London (United Kingdom) · 1997 Ph.D.