Publication year
2012Source
Neuropediatrics, 43, 3, (2012), pp. 168-171ISSN
Annotation
1 juni 2012
Publication type
Article / Letter to editor

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Organization
Human Genetics
Laboratory of Genetic, Endocrine and Metabolic Diseases
Neurology
Paediatrics - OUD tm 2017
Journal title
Neuropediatrics
Volume
vol. 43
Issue
iss. 3
Page start
p. 168
Page end
p. 171
Subject
DCN NN - Brain networks and neuronal communication; DCN PAC - Perception action and control IGMD 4: Glycostation disorders; IGMD 3: Genomic disorders and inherited multi-system disordersAbstract
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.
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- Faculty of Medical Sciences [80037]
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