Scholars@Duke
Sarah Phyllis Young

Sarah Phyllis Young

Professor of Pediatrics
Pediatrics, Medical Genetics

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

Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.

Journal Article Molecular genetics and metabolism · April 2026 ContextLate-onset Pompe disease (LOPD) is a lysosomal disease characterized by progressive weakness primarily in skeletal and respiratory muscles with symptom onset ranging from infancy to adulthood. The distinguishing feature between infantile-on ... Full text Cite

Focused ultrasound delivery of enzyme replacement therapy to the brain of Gaa-/- Pompe disease mice.

Journal Article Mol Genet Metab · January 2026 Clinically used enzyme replacements therapies (ERTs) have been successful in mitigating peripheral tissue pathology in patients with infantile onset (IOPD) and late onset (LOPD) Pompe disease (PD). However, none of the approved therapies are known to cross ... Full text Link to item Cite

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

Journal Article Genet Med Open · 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 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 - 2027

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Education

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