Brain glucose supply and the syndrome of infantile neuroglycopenia.
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.
Pascual
Juan M
JM
Colleen Giblin Research Laboratories, Neurological Institute of New York, USA. juan.pascual@utsouthwestern.edu
Wang
Dong
D
Hinton
Veronica
V
Engelstad
Kristin
K
Saxena
Chitra M
CM
Van Heertum
Ronald L
RL
De Vivo
Darryl C
DC
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
D001786:Blood Glucose; D051272:Glucose Transporter Type 1; D005947:Glucose