The many faces of glut1 deficiency syndrome

Michal Tzadok*, Andreea Nissenkorn, Keren Porper, Israel Matot, Shai Marcu, Yair Anikster, Shay Menascu, Dani Bercovich, Bruria Ben Zeev

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

34 Scopus citations

Abstract

Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We describe a cohort of isolated and familial cases of glucose transporter protein type 1 deficiency syndrome, emphasizing seizure semiology, electroencephalographic (EEG) features, treatment response and mutation pathogenicity. SLC2A1 mutations were detected in 3 sporadic and 4 familial cases. In addition, mutations were identified in 9 clinically unaffected family members in 2 families. The phenotypic spectrum of glucose transporter protein type 1 deficiency is wider than previously recognized, with considerable intra-familial variation. Diagnosis requires either hypoglycorrachia followed by SLC2A1 sequencing or direct gene sequencing. A ketogenic diet should be the first line of treatment, but more flexible diets, like the Atkins modified diet, can also be followed. Carbonic anhydrase inhibitors, such as acetazolamide or zonisamide, can be effective for seizure control.

Original languageEnglish
Pages (from-to)349-359
Number of pages11
JournalJournal of Child Neurology
Volume29
Issue number3
DOIs
StatePublished - Mar 2014

Keywords

  • SLC2A1 gene
  • carbonic anhydrase inhibitors
  • glucose transporter protein type 1 deficiency syndrome
  • ketogenic diet

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