Emilie Ruth Muelly1, Don C. Bigler1, Kevin A. Strauss2, Pavlina Todorova3, D. Holmes Morton2, Julie Mack4, Arabinda Choudhary4, David O. Aleman1, Jeff Vesek4, Megan Taylor Sutton1, Scott C. Bunce1, Gregory J. Moore5
1Center for Emerging Neurotechnology & Imaging, Penn State Hershey Neurosciences Institute, Penn State College of Medicine, Hershey, PA, United States; 2Clinic for Special Children, Strasburg, PA; 3Division of Basic Sciences, University of Texas Southwestern Medical Center, Dallas, TX; 4Radiology, Penn State College of Medicine, Hershey, PA, United States; 5Radiology, Geisinger Medical Center, Danville, PA
Maple Syrup Urine Disease (MSUD) is an inborn error of metabolism of branched-chain amino acids. Illness and stress puts MSUD patients at risk of acute crises and encephalopathy despite adequate dietary treatment. Chronically, neuropsychiatric sequelae such as depression, anxiety may develop. The effects of MSUD on neurochemistry in the chronic state is unknown. We conducted single voxel proton magnetic resonance spectroscopy in three brain regions in MSUD patients and their unaffected siblings. MSUD patients exhibited decreased N-acetylaspartate, creatine, and glutamate. These findings suggest impaired energy production and neurotransmitter depletion, two theories of pathogenesis of neuropsychiatric sequelae in MSUD.