title: In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.
abstract: Metabolic disorders, whether hereditary or acquired, affect the brain, and abnormalities of the brain are related to cellular integrity; particularly in regard to neurons and astrocytes as well as interactions between them. Metabolic disturbances lead to alterations in cellular function as well as microscopic and macroscopic structural changes in the brain with diabetes, the most typical example of metabolic disorders, and a number of hereditary metabolic disorders. Alternatively, cellular dysfunction and degeneration of the brain lead to metabolic disturbances in hereditary neurological disorders with neurodegeneration. Nuclear magnetic resonance (NMR) techniques allow us to assess a range of pathophysiological changes of the brain in vivo. For example, magnetic resonance spectroscopy detects alterations in brain metabolism and energetics. Physiological magnetic resonance imaging (MRI) detects accompanying changes in cerebral blood flow related to neurovascular coupling. Diffusion and T1/T2-weighted MRI detect microscopic and macroscopic changes of the brain structure. This review summarizes current NMR findings of functional, physiological and biochemical alterations within a number of hereditary and acquired metabolic disorders in both animal models and humans. The global view of the impact of these metabolic disorders on the brain may be useful in identifying the unique and/or general patterns of abnormalities in the living brain related to the pathophysiology of the diseases, and identifying future fields of inquiry.
authors.affiliation: Hoglund Brain Imaging Center, University of Kansas Medical Center, 3901 Rainbow Blvd, Mail Stop 1052, Kansas City, KS, 66160, USA.
authors.forename: Erica B
authors.initials: EB
authors.lastname: Sherry
authors.affiliation: Hoglund Brain Imaging Center, University of Kansas Medical Center, 3901 Rainbow Blvd, Mail Stop 1052, Kansas City, KS, 66160, USA.|The Department of Molecular and Integrative Physiology, University of Kansas Medical Center, Kansas City, KS, USA.
authors.forename: Phil
authors.initials: P
authors.lastname: Lee
authors.affiliation: Hoglund Brain Imaging Center, University of Kansas Medical Center, 3901 Rainbow Blvd, Mail Stop 1052, Kansas City, KS, 66160, USA. ichoi@kumc.edu.|The Department of Molecular and Integrative Physiology, University of Kansas Medical Center, Kansas City, KS, USA. ichoi@kumc.edu.|The Department of Neurology, University of Kansas Medical Center, Kansas City, KS, USA. ichoi@kumc.edu.
authors.forename: In-Young
authors.initials: IY
authors.lastname: Choi
mesh_terms: D000818:Animals; D001921:Brain / Q000473:pathology*; D001923:Brain Chemistry; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008659:Metabolic Diseases / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D009457:Neuroglia / Q000378:metabolism; D009474:Neurons / Q000378:metabolism
keywords: Brain; Inborn errors; MRI; MRS; Metabolic disorders