Student Directory

Emilie Muelly

Emilie Muelly

Class Year: M4


  • M.D./Ph.D. Program

Contact Information:

Biographical Information:

Hometown: Wexford, PA


Undergraduate Education:  BA/BS/06 Neuroscience; German (Minor in Chemistry/University of Pittsburgh, PA

Research Interests:

Research Interest: Neural Sequelae of Maple Syrup Urine Disease

Advisor: Scott Bunce, PhD
Graduate Program: Neuroscience

Thesis: "Neuropsychiatric and Neurochemical Sequelae of Maple Syrup Urine Disease"

Description: Maple Syrup Urine Disease (MSUD) is a rare inborn error of metabolism with high prevalence in the Old Order Mennonite population in central Pennsylvania. Deficiency in the enzyme alpha-ketoacid dehydrogenase causes an inability to metabolize branched-chain amino acids. Buildup of these amino acids and their respective keto-acids can damage the brain and cause death if left untreated. Following diagnosis via screening, treatment consists of careful monitoring and diet modification to keep levels of these amino acids within a normal range. Dr. Holmes Morton and Dr. Kevin Strauss run the Clinic of Special Children in Strasburg, PA and manage approximately 80 patients (children and adults) with MSUD. They have documented a very high prevalence of depression and anxiety in patients with MSUD. We collaborate with the Clinic of Special Children and use various Magnetic Resonance technologies (anatomical imaging, diffusion tensor imaging, and MR spectroscopy) characterizing the acute and chronic changes in the brain that occur in patients with Maple Syrup Urine Disease. A primary goal of my research is correlate these morphometric and neurochemical imaging  findings with variances in clinical presentation of MSUD and psychiatric comorbidities, and to investigate their modulation following liver transplant treatment.

Meeting Presentations

  • 2001
    Genomics & Proteomics in Kidney & Urologic Diseases Conference, Washington, DC
  • 2004
    Meeting of the Society for Neuroscience, San Diego, CA
  • 2005
    Univeristy of Pittsburgh Honors College Undergraduate Research Fair, Pittsburgh, PA
    Symposium at the Association for the Advancement of Behavior Therapy, Washington, DC
  • 2008
    Association for Behavioral & Cognitive Therapies Conference, Orlando, FL
    Conference of the Anxiety Disorders Association of America, Savannah, GA
  • 2010
    Penn State College of Medicine Graduate Research Forum, Hershey, PA
    Wisconsin Symposium on Emotion, Madison, WI (poster)
    Symposium on Transplantation for Maple Syrup Urine Disease (MSUD) and Crigler-Najjar Syndrome
    MNTP Workshop Summer Symposium
    Meeting of the International Society for Magnetic Resonance in Medicine
    Society for Neuroscience
  • 2011
    Penn State College of Medicine Graduate Research Forum, Hershey, PA
    Annual National MD/PhD Student Conference, Keystone, CO
    Symposium on Transplantation for Maple Syrup Urine Disease (MSUD) and Crigler-Najjar Syndrome
    Plain People & Modern Medicine, F&M Undergraduate Course


Jones NP, Siegle GJ, Muelly ER, Haggerty A, Ghinassi F (2010) Poor performance on cognitive tasks in depression: Doing too much or not enough? Cognitive, Affective and Behavioral Neuroscience 10(1):129-140 NIHMSID173332 PMCID:  PMC2841800

Muelly ER, Berlin C (2011) Tourette Syndrome, Pregnancy, and Breastfeeding.  In:  Walkup J, Mink J, McNaught K (Eds) A Family's Guide to Tourette Syndrome.  Tourette Syndrome Association (book chapter)

Muelly ER, More GJ, Bunce SC, Mack J, Bigler DC, Morton DH, Strauss KA (2013) Biochemical correlates of neuropsychiatric illness in maple syrup urine disease J Clin Invest [Epub ahead of print] PMID: 23478409

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