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Published on: August 3, 2021
[Glucose transporter protein type 1 (GLUT-1) deficiency syndrome]
Anette Ramm-Pettersen1, Kaja Kristine Selmer, Karl O Nakken
1Seksjon for barn og ungdom med epilepsi, Avdeling for kompleks epilepsi – SSE, Klinikk for kirurgi og nevrofag, Oslo universitetssykehus, Postboks 53, 1306 Bærum postterminal, Norway. anette.ramm-pettersen@
Background:
Glucose is the brain's main source of energy. To pass the blood-brain barrier, glucose transporter protein type 1 (GLUT-1) is essential. Mutations in the SLC2A1 gene which codes for GLUT-1 may therefore compromise the supply of glucose to the brain. The aim of this review is to describe the clinical consequences of such mutations, with special emphasis on GLUT-1 encephalopathy.
Material And Methods:
This review is based on a non-systematic literature search in PubMed and the authors' experience within the field.
Results:
Epileptic or epilepsy-like are usually the first symptom in children with the GLUT-1 deficiency syndrome. Later on these children suffer delayed psychomotor development, microcephaly, ataxia, spasticity or movement disorders. EEG abnormalities may develop. GLUT-1 deficiency syndrome should be suspected in children with epilepsy-like seizures and delayed development combined with a low content of glucose in spinal fluid. The diagnosis is confirmed by genetic testing. Treatment is a ketogenic diet, as ketone bodies pass the blood-brain barrier using other transport proteins than GLUT-1.
Interpretation:
GLUT-1-deficiency syndrome is a rare metabolic encephalopathy which is not well known and probably underdiagnosed. An early diagnosis and early start of a ketogenic diet may give these children a normal or nearly normal life.
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