Journal
BRAIN & DEVELOPMENT
Volume 29, Issue 2, Pages 92-97Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2006.07.007
Keywords
glucose transporter type 1 deficiency syndrome; GLUT1; FDG-PET; mutation; ketogenic diet
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We report three Japanese patients with glucose transporter type I deficiency syndrome (Glut1DS). Two patients had a normal erythrocyte 3-O-methylglucose (3OMG) uptake, one with a previously reported T295M substitution and the other with a novel 12-bp insertion at nt 1034-1035, ins CAGCAGCTGTCT. The third patient, with deficient 30MG uptake, had a previously reported hot-spot mutation, R333W. All three patients responded to a ketogenic diet. All patients showed a significant improvement in ataxia, with blood beta-hydroxybutyrate (BOHB) levels ranging from 0.1 to 3 mM. BOHB levels of at least 3 mM were necessary to control seizures, and higher ketone levels are recommended to meet brain energy needs during development. FDG-PET scan, performed before and after a ketogenic diet in the R333W patient, did not change despite a clinical improvement. This clinical condition is treatable and early diagnosis is important. (c) 2006 Elsevier B.V. All rights reserved.
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