Glucose Transporter Type 1 Deficiency Syndrome: A Single-Center Case Series
Miraç Yıldırım1
, Ömür Babayiğit2, Fatma Ilgaz3, Dilek Yalnızoğlu2, Meral Topçu2
1Ankara University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Turkey
2Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Turkey
3Hacettepe University Faculty of Health Sciences, Department of Nutrition and Dietetics, Ankara, Turkey
Keywords: Glucose transporter type 1 deficiency syndrome, ataxia, SLC2A1, ketogenic diet
Abstract
Glucose transporter type 1 deficiency syndrome is a neurometabolic encephalopathy characterized by movement disorders, intractable seizures, and acquired microcephaly. Two girls and a boy between the ages of 3 and 15 years were included in this study. The main clinical manifestations were seizure, ataxia, global developmental delay, and acquired microcephaly. The most common electroencephalographic finding was interictal focal or generalized epileptiform discharges. The cerebrospinal fluid to blood glucose ratio was determined to be low (0.35 and 0.40). Two cases had heterozygous de novo mutations and one had microdeletion of SLC2A1. All cases were treated with a ketogenic diet (KD) and were seizure-free in the sixth month of the diet. KD also improved ataxic gait, language skills, and behavioral disturbances. Inconsistency was demonstrated between electroencephalography findings and seizure semiologies detected in patients with GLUT1DS, and KD was found to be most effective for seizures and less effective for ataxia, language skills, and behavioral disturbances.
Informed consent was obtained from the parents of the patients.
Externally and internally peer-reviewed.
Surgical and Medical Practices: F.I., Concept: M.Y., D.Y., M.T., Design: M.Y., Ö.B., M.T., Data Collection or Processing: M.Y., F.I., D.Y., Analysis or Interpretation: M.Y., D.Y., M.T., Literature Search: M.Y., Ö.B., F.I., Writing: M.Y., Ö.B., F.I.
No conflict of interest was declared by the authors.
The authors declared that this study received no financial support.