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Diagnosing Creatine Deficiency Syndromes - Sarah Young PhD
Diagnosing Creatine Deficiency Syndromes  
2015 SERC-SERGG Annual Conference
Renaissance Asheville Hotel
Asheville, NC  
Date
July 18th, 2015
Length
19:10

About the Presentation
Dr. Sarah Young presents, Diagnosing Creatine Deficiency Syndromes.

Presenter Biography
Sarah Young is an Assistant Professor in the Department of Pediatrics, in the Duke School of Medicine, and Co-Director of the Duke Biochemical Genetics Laboratory. She graduated from the Manchester University, UK with a degree in Biochemistry in 1993 and completed a Ph.D. in Biochemistry in 1998 at the Institute of Child Health, University College London. She has worked at the Duke School of Medicine since 1999, completing a fellowship in Clinical Biochemical Genetics in 2005. Her main research interest is the development and application of biomarker assays for rare, inherited metabolic disorders that will improve diagnosis of these conditions, and are useful for monitoring treatments. This includes neurometabolic disorders such as the creatine deficiency syndromes. These disorders can be diagnosed using liquid chromatography-tandem mass spectrometric assays that measure biomarkers in urine and plasma. Additionally, more rapid methods have been developed using tandem mass spectrometry that can be used for newborn screening.

Selected Publications by the Presenter
  1. El-Gharbawy A.H., Goldstein J.L., Millington D.S., Vaisnins A.E., Schlune A., Barshop B.A., Schulze A.,Koeberl D.D., Young S.P. (2013) Elevation of Guanidinoacetate in Newborn Dried Blood Spots and Impact of Early Treatment in GAMT Deficiency, Mol Genet Metab. 109:215-7.
  2. Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas PM, Cusmano-Ozog K, Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M, Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffmann V, DiMauro S, Schnermann J and Venditti CP (2013) Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. . Proc Natl Acad Sci USA. 110:13552-7. doi: 10.1073/pnas.1302764110.
  3. Farah BL, Madden L, Li S, Nance S, Bird A, Bursac N, Yen PM, Young SP and Koeberl DD (2014) Adjunctive beta2-agonist treatment reduces glycogen independently of receptor-mediated acid alpha-glucosidase uptake in the limb muscles of mice with Pompe disease. FASEB J 28:2272-80.
  4. Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D and Kishnani PS (2014) Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J 28:2171-6
  5. Houten SM, Denis S, te Brinke H, Jongejan A, van Kampen AHC, Bradley EJ, Baas F, Hennekam RCM, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M and Wanders RJA (2014) Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet.23:5009-16.
  6. Zhang H, Wood T, Young SP, Millington DS. (2015) A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: An improved clinical screening test for the mucopolysaccharidoses. Mol Genet Metab.114:123-8
  7. Prasun P, Young S, Salomons G, Werneke A, Jiang YH, Struys E, Paige M, Avantaggiati ML, McDonald M. (2015) Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria. JIMD Rep.19:111-5.
  8. Chien Y-Y, Goldstein JL, Hwu W-L, Smith PB, Lee NC, Chiang SC, Tolun AA, Zhang H, Vaisnins AE, Millington DS, Kishnani PS, Young SP. (2015) Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile and Late-Onset Pompe Disease Identified by Newborn Screening JIMD Rep.19:67-73.
  9. Nilsson MI, MacNeil LG, Kitaoka Y, Suri R, Young SP, Kaczor JJ, Nates NJ, Ansari MU, Wong T, Ahktar M, Brandt L, Hettinga BP, Tarnopolsky MA Combined aerobic exercise and enzyme replacement therapy rejuvenates the mitochondrial-lysosomal axis and alleviates autophagic blockage in Pompe disease. Free Radic Biol Med. 2015 May 19. pii: S0891-5849(15)00230-0. doi: 10.1016/j.freeradbiomed.2015.05.019. [Epub ahead of print]PMID: 26001726
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