Sarah Phyllis Young, PhD



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Associate Professor of Pediatrics
Department / Division:
Pediatrics / Pediatrics-Medical Genetics
801 Capitola Drive, Suite 6
Durham, NC 27713
Office Telephone:
(919) 684-4259
  • PhD, Institute of Child Health (UK), 1997
Research Interests:
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.
Representative Publications:
  • Zhang, H; Young, SP; Auray-Blais, C; Orchard, PJ; Tolar, J; Millington, DS. Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry. Clinical chemistry. 2011;57:1005-1012.  Abstract
  • Sun, B; Kulis, MD; Young, SP; Hobeika, AC; Li, S; Bird, A; Zhang, H; Li, Y; Clay, TM; Burks, W; Kishnani, PS; Koeberl, DD. Immunomodulatory gene therapy prevents antibody formation and lethal hypersensitivity reactions in murine pompe disease. Molecular Therapy. 2010;18:353-360.  Abstract
  • Tolun, AA; Zhang, H; Il'yasova, D; Szt√°ray, J; Young, SP; Millington, DS. Allantoin in human urine quantified by ultra-performance liquid chromatography-tandem mass spectrometry. Analytical Biochemistry. 2010;402:191-193.  Abstract
  • Zhang, H; Il'yasova, D; Sztaray, J; Young, SP; Wang, F; Millington, DS. Quantification of the oxidative damage biomarker 2,3-dinor-8-isoprostaglandin-F(2alpha) in human urine using liquid chromatography-tandem mass spectrometry. Analytical Biochemistry. 2010;399:302-304.  Abstract
  • Auray-Blais, C; Millington, DS; Barr, C; Young, SP; Mills, K; Clarke, JT. Gb(3)/creatinine biomarkers for Fabry disease: issues to consider. Molecular Genetics and Metabolism. 2009;97:237.  Abstract
  • Auray-Blais, C; Millington, DS; Young, SP; Clarke, JT; Schiffmann, R. Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease. Journal of Inherited Metabolic Disease. 2009;32:303-308.  Abstract
  • Goldstein, JL; Young, SP; Changela, M; Dickerson, GH; Zhang, H; Dai, J; Peterson, D; Millington, DS; Kishnani, PS; Bali, DS. Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory. Muscle and Nerve. 2009;40:32-36.  Abstract
  • Sun, B; Zhang, H; Bird, A; Li, S; Young, SP; Koeberl, DD. Impaired clearance of accumulated lysosomal glycogen in advanced Pompe disease despite high-level vector-mediated transgene expression. The Journal of Gene Medicine. 2009;11:913-920.  Abstract
  • Young, SP; Zhang, H; Corzo, D; Thurberg, BL; Bali, D; Kishnani, PS; Millington, DS. Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker. Genetics in Medicine. 2009;11:536-541.  Abstract
  • Zhang, H; Stevens, RD; Young, SP; Surwit, R; Georgiades, A; Boston, R; Millington, DS. A convenient LC-MS method for assessment of glucose kinetics in vivo with D-[13C6]glucose as a tracer. Clinical chemistry. 2009;55:527-532.  Abstract
  • Case, LE; Koeberl, DD; Young, SP; Bali, D; DeArmey, SM; Mackey, J; Kishnani, PS. Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Molecular Genetics and Metabolism. 2008;95:233-235.  Abstract
  • Sun, B; Young, SP; Li, P; Di, C; Brown, T; Salva, MZ; Li, S; Bird, A; Yan, Z; Auten, R; Hauschka, SD; Koeberl, DD. Correction of multiple striated muscles in murine Pompe disease through adeno-associated virus-mediated gene therapy. Molecular Therapy. 2008;16:1366-1371.  Abstract
  • Sun, B; Bird, A; Young, SP; Kishnani, PS; Chen, YT; Koeberl, DD. Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. The American Journal of Human Genetics. 2007;81:1042-1049.  Abstract
  • Pedersen, CB; Bischoff, C; Christensen, E; Simonsen, H; Lund, AM; Young, SP; Koeberl, DD; Millington, DS; Roe, CR; Roe, DS; Wanders, RJ; Ruiter, JP; Keppen, LD; Stein, Q; Knudsen, I; Gregersen, N; Andresen, BS. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatric Research. 2006;60:315-320.  Abstract
  • Sun, B; Zhang, H; Benjamin, DK; Brown, T; Bird, A; Young, SP; McVie-Wylie, A; Chen, YT; Koeberl, DD. Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. Molecular Therapy. 2006;14:822-830.  Abstract
  • Zhang, H; Kallwass, H; Young, SP; Carr, C; Dai, J; Kishnani, PS; Millington, DS; Keutzer, J; Chen, YT; Bali, D. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genetics in Medicine. 2006;8:302-306.  Abstract
  • An, Y; Young, SP; Kishnani, PS; Millington, DS; Amalfitano, A; Corz, D; Chen, YT. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Molecular Genetics and Metabolism. 2005;85:247-254.  Abstract
  • Franco, LM; Sun, B; Yang, X; Bird, A; Zhang, H; Schneider, A; Brown, T; Young, SP; Clay, TM; Amalfitano, A; Chen, YT; Koeberl, DD. Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. Molecular Therapy. 2005;12:876-884.  Abstract
  • Sun, B; Zhang, H; Franco, LM; Young, SP; Schneider, A; Bird, A; Amalfitano, A; Chen, YT; Koeberl, DD. Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. Molecular Therapy. 2005;11:57-65.  Abstract
  • Koeberl, DD; Young, SP; Gregersen, NS; Vockley, J; Smith, WE; Benjamin, DK; An, Y; Weavil, SD; Chaing, SH; Bali, D; McDonald, MT; Kishnani, PS; Chen, YT; Millington, DS. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatric Research. 2003;54:219-223.  Abstract
  • Young, SP; Matern, D; Gregersen, N; Stevens, RD; Bali, D; Liu, HM; Koeberl, DD; Millington, DS. A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. Clinica Chimica Acta. 2003;337:103-113.  Abstract
  • Young, SP; Stevens, RD; An, Y; Chen, YT; Millington, DS. Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry. Analytical Biochemistry. 2003;316:175-180.  Abstract
  • Young, SP; Johnson, AW; Muller, DP. Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease. Clinical science (London, England : 1979). 2001;101:697-705.  Abstract
  • An, Y; Young, SP; Hillman, SL; Van Hove, JL; Chen, YT; Millington, DS. Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Analytical Biochemistry. 2000;287:136-143.  Abstract