Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.

Abstract

BACKGROUND:

Typical cases of glucose transporter-1 deficiency syndrome (GLUT1-DS) present with early-onset epilepsy. We report symptoms, diagnostic results, and effects of therapy in two patients diagnosed with GLUT1-DS at the age of 10 and 15 years, respectively.

PATIENTS:

Patient 1: After four cerebral seizures in the first 2 years of life the patient was seizure-free but showed a complex movement disorder, expressive speech disorder, and mental retardation. Ratio of cerebrospinal fluid (CSF) to blood glucose was 0.41 (reference range 0.65 ± 0.1), molecular genetic testing confirmed GLUT1 deficiency with the novel pathogenic mutation c.1377dupC (p.Phe460LeufsX3) in the SLC2A1 gene. Following 9 months of ketogenic diet started at the age of 10 years, there was distinct improvement of speech and movement disorder. Patient 2 showed pharmacorefractive epilepsy, mental retardation, and a mild movement disorder. At the age of 15 years, extensive intake of food with high fat content was observed. Ratio of CSF to blood glucose was 0.41 (reference range 0.65 ± 0.1). The pathogenic mutation c.634C>T (p.Arg212Cys) was found in the SLC2A1 gene.

CONCLUSION:

Self-induced high-fat diet can be a hint toward GLUT1-DS. Ketogenic diet can be beneficial even when started in late childhood, although it may take several months to achieve a positive effect.

• Authors: Gwendolyn Gramer, Nicole I Wolf, Daniel Vater, Thomas Bast, René Santer, Erik-Jan Kamsteeg, Ron A Wevers, Friedrich Ebinger
• Journal: Neuropediatrics (Neuropediatrics) Vol. 43 Issue 3 Pg. 168-71 (Jun 2012) ISSN: 1439-1899 [Electronic] Germany
• PMID: 22622956 (Publication Type: Case Reports, Journal Article)
• Copyright: Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Chemical References

• Glucose Transporter Type 1

Topics

• Adolescent
• Child
• Epilepsy (genetics)
• Female
• Glucose Transporter Type 1 (deficiency, genetics)
• Humans
• Male
• Syndrome