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

Sex differences in mitochondrial free-carnitine levels in subjects at-risk and with Alzheimer's disease in two independent study cohorts.

Journal Article Mol Psychiatry · June 2025 A major challenge in the development of more effective therapeutic strategies for Alzheimer's disease (AD) is the identification of molecular mechanisms linked to specific pathophysiological features of the disease. Importantly AD has a two-fold higher inc ... Full text Link to item Cite

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.

Journal Article Mol Genet Metab Rep · March 2025 GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1 g ... Full text Open Access Link to item Cite

Quantification of Glycosaminoglycans in Urine by Isotope Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry.

Journal Article Curr Protoc · February 2025 Mucopolysaccharidoses (MPSs) are complex lysosomal diseases that result in the accumulation of glycosaminoglycans (GAGs) in urine, blood, and tissues. Lysosomal enzymes responsible for GAG degradation are defective in MPSs. GAGs including chondroitin sulfa ... Full text Link to item Cite
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Recent Grants

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

Combination Gene Therapy for Treatment of Canine Mucopolysaccharidosis Type I

ResearchPrincipal Investigator · Awarded by Childrens Hospital of Orange County · 2023 - 2026

Biomarker studies in plasma from patients with Gaucher disease

ResearchCo Investigator · Awarded by Shire Human Genetics Therapies · 2018 - 2025

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Education, Training & Certifications

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