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CC BY-NC-ND 4.0 · Journal of Health and Allied Sciences NU 2018; 08(04): 040-042
DOI: 10.1055/s-0040-1708773
Case Report

An Unusual Presentation of Glucose Transporter Type 1 Deficiency Syndrome

Saritha G.
1   Assistant Professor, M.Sc. Pediatric Nursing, College of Nursing, Pondicherry Institute of Medical Sciences, Puducherry-14
,
Bhavani S.
2   Assistant Professor, M.Sc. Pediatric Nursing, College of Nursing, Pondicherry Institute of Medical Sciences, Puducherry-14
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Abstract

Glucose serves as the major energy sources for developing brain. In the resting state, the adult brain can consume up to 25% of the body's total glucose supply, while in infants and children it can use as much as 80%. Glucose entry into brain occurs via glucose transporter proteins GLUTs). They are five GLUTs protein. Out of five GLUTs 1 and GLUTS 3 are located in brain, with GLUTs-1 found in blood brain barrier and choroid plexus and GLUTs-3 found in neurons. Glucose transporter type 1 deficiency syndrome is an impaired glucose transport into the brain as the result of a mutation of the SLC2A1 gene leads to development of a metabolic encephalopathy of developing brain.

Keywords

Ketogenic diet - Glucose transporter deficiency syndrome type I (GLUT1).


Publication History

Received: 13 September 2018

Accepted: 21 November 2018

Article published online:
21 April 2020

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