Glucose Transporter Type 1 (GLUT1) Deficiency Syndrome: A Case Report
DOI:
https://doi.org/10.22517/25395203.25778Keywords:
GLUT1, Glut1 deficiency syndrome, SDGLUT1, Epilepsy, KetogenicAbstract
The human brain represents only 2% of an adult individual's body weight. However, it requires 25% of the energy consumed by the body. This energy, primarily delivered to the brain in the form of the nutrient glucose, must cross the blood-brain barrier (BBB) through glucose transporter 1 (GLUT1), the main cerebral hexose transporter. Therefore, the levels of this transporter could affect brain function.
It is now recognized that Glut1 Deficiency Syndrome is significantly underreported. It follows an autosomal dominant inheritance pattern, with 90% of cases resulting from de novo mutations, while a small percentage are inherited in an autosomal recessive manner.
This report reviews the case of an adult patient with refractory epilepsy and progressive deterioration, whose clinical characteristics and genetic study confirmed the SLC2A1 mutation, establishing the diagnosis and highlighting the importance of considering this condition in differential diagnoses.
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