Brain glucose supply and the syndrome of infantile neuroglycopenia

Juan M. Pascual, Dong Wang, Veronica Hinton, Kristin Engelstad, Chitra M. Saxena, Ronald L. Van Heertum, Darryl C. De Vivo

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)507-513
Number of pages7
JournalArchives of Neurology
Volume64
Issue number4
StatePublished - Apr 2007

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Glucose
Brain
Nervous System
Epilepsy
Glucose Transporter Type 1
Pyramidal Tracts
Neuropsychological Tests
Neurologic Examination
Hyperinsulinism
Hypoglycemia
Syndrome
Brain Development
Phenotype
Mutation
Functional Imaging
Energetics
Test Methods
Metabolism
Substrate
Causes

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Pascual, J. M., Wang, D., Hinton, V., Engelstad, K., Saxena, C. M., Van Heertum, R. L., & De Vivo, D. C. (2007). Brain glucose supply and the syndrome of infantile neuroglycopenia. Archives of Neurology, 64(4), 507-513.

Brain glucose supply and the syndrome of infantile neuroglycopenia. / Pascual, Juan M.; Wang, Dong; Hinton, Veronica; Engelstad, Kristin; Saxena, Chitra M.; Van Heertum, Ronald L.; De Vivo, Darryl C.

In: Archives of Neurology, Vol. 64, No. 4, 04.2007, p. 507-513.

Research output: Contribution to journalArticle

Pascual, JM, Wang, D, Hinton, V, Engelstad, K, Saxena, CM, Van Heertum, RL & De Vivo, DC 2007, 'Brain glucose supply and the syndrome of infantile neuroglycopenia', Archives of Neurology, vol. 64, no. 4, pp. 507-513.
Pascual JM, Wang D, Hinton V, Engelstad K, Saxena CM, Van Heertum RL et al. Brain glucose supply and the syndrome of infantile neuroglycopenia. Archives of Neurology. 2007 Apr;64(4):507-513.
Pascual, Juan M. ; Wang, Dong ; Hinton, Veronica ; Engelstad, Kristin ; Saxena, Chitra M. ; Van Heertum, Ronald L. ; De Vivo, Darryl C. / Brain glucose supply and the syndrome of infantile neuroglycopenia. In: Archives of Neurology. 2007 ; Vol. 64, No. 4. pp. 507-513.
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