title: Brain glucose supply and the syndrome of infantile neuroglycopenia.
abstract: OBJECTIVE
  To describe neuroglycopenia as a specific syndrome caused by insufficient glucose availability during brain development.
  
  
  METHODS
  Neurologic examinations, neuropsychologic tests, biochemical methods, and functional imaging.
  
  
  METHODS
  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.
authors.affiliation: Colleen Giblin Research Laboratories, Neurological Institute of New York, USA. juan.pascual@utsouthwestern.edu
authors.forename: Juan M
authors.initials: JM
authors.lastname: Pascual
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.forename: Veronica
authors.initials: V
authors.lastname: Hinton
authors.forename: Kristin
authors.initials: K
authors.lastname: Engelstad
authors.forename: Chitra M
authors.initials: CM
authors.lastname: Saxena
authors.forename: Ronald L
authors.initials: RL
authors.lastname: Van Heertum
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
mesh_terms: D000293:Adolescent; D000328:Adult; D001786:Blood Glucose / Q000378:metabolism; D001921:Brain / Q000378:metabolism* / Q000473:pathology; D001928:Brain Diseases, Metabolic / Q000235:genetics / Q000378:metabolism* / Q000523:psychology; D005260:Female; D005947:Glucose / Q000134:cerebrospinal fluid / Q000172:deficiency*; D051272:Glucose Transporter Type 1 / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007003:Hypoglycemia / Q000097:blood / Q000473:pathology; D007223:Infant; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D049268:Positron-Emission Tomography; D013577:Syndrome
chemical_list: D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D005947:Glucose