 |
|
Brain Glucose Supply and the Syndrome of Infantile Neuroglycopenia
Juan M. Pascual, MD, PhD;
Dong Wang, MD;
Veronica Hinton, PhD;
Kristin Engelstad, BS;
Chitra M. Saxena, MPH;
Ronald L. Van Heertum, MD;
Darryl C. De Vivo, MD
Arch Neurol. 2007;64:(doi:10.1001/archneur.64.4.noc60165).
Objective To describe neuroglycopenia as a specific syndrome caused by insufficient glucose availability during brain development.
Design Neurologic examinations, neuropsychologic tests, biochemical methods, and functional imaging.
Participants Patients afflicted by genetic mutation of the cerebral glucose transporter type 1 and a patient afflicted by persistent infantile hypoglycemia (hyperinsulinism) matched to her healthy twin.
Results The hallmark of the phenotype is the combination of infantile epilepsy and cerebellar and pyramidal tract dysfunction, together with permanent neuropsychologic abnormalities and reduced thalamocortical glucose uptake despite subsequent supply of energetic substrate.
Conclusions When neuroglycopenia—the lack of adequate glucose supply to the nervous system—occurs in the developing brain, thalamic and cortical metabolism mature aberrantly, causing epilepsy associated with other characteristic neurologic and behavioral disturbances, a pattern also reflected in functional images, as if there were a temporal window during which glucose were crucial for brain development. When maturation is complete, glucose merely serves as a fuel, and then, when deficient, it only causes unrelated disturbances.
Published online February 12, 2007 (doi:10.1001/archneur.64.4.noc60165).
Author Affiliations: Colleen Giblin Research Laboratories, Neurological Institute of New York (Drs Pascual, Wang, and De Vivo, and Ms Engelstad), Departments of Neurology (Drs Pascual, Wang, and De Vivo, and Ms Engelstad) and Pediatrics (Drs Pascual and De Vivo), Department of Radiology, Kreitchman PET Center (Ms Saxena and Dr Van Heertum), and Department of Neurology, Sergievsky Center (Dr Hinton), College of Physicians and Surgeons, Columbia University, New York, New York.
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Structural Signatures and Membrane Helix 4 in GLUT1: INFERENCES FROM HUMAN BLOOD-BRAIN GLUCOSE TRANSPORT MUTANTS
Pascual et al.
J. Biol. Chem. 2008;283:16732-16742.
ABSTRACT
| FULL TEXT
|
