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Milder phenotypes of glucose transporter type 1 deficiency syndrome
Author(s) -
ANAND GEETHA,
PADENIYA ANURUDDHA,
HANRAHAN DONNCHA,
SCHEFFER HANS,
ZAIWALLA ZENOBIA,
COX DEBBIE,
MANN NICHOLAS,
HEWERTSON JOHN,
PRICE SUE,
NEMETH ANDREA,
ARSOV TODOR,
SCHEFFER INGRID,
JAYAWANT SANDEEP,
PIKE MICHAEL,
MCSHANE TONY
Publication year - 2011
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2011.03949.x
Subject(s) - dystonia , epilepsy , phenotype , paroxysmal dyskinesia , medicine , glucose transporter , dyskinesia , movement disorders , glucose transporter type 1 , pediatrics , endocrinology , genetics , biology , gene , insulin , psychiatry , disease , glut1 , parkinson's disease
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation is with infantile‐onset epilepsy and severe developmental delay. Non‐classical phenotypes with movement disorders and early‐onset absence epilepsy are increasingly recognized and the clinical spectrum is expanding. The hallmark is hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2mmol/l) in the presence of normoglycaemia with a CSF/blood glucose ratio of less than 0.4. GLUT1DS is due to a mutation in the solute carrier family 2, member 1 gene ( SLC2A1 ). We present five individuals (four males, one female), all of whom had a mild phenotype, highlighting the importance of considering this diagnosis in unexplained neurological disorders associated with mild learning difficulties, subtle motor delay, early‐onset absence epilepsy, fluctuating gait disorders, and/or dystonia. The mean age at diagnosis was 8 years 8 months. This paper also shows phenotypical parallels between GLUT1DS and paroxysmal exertion‐induced dyskinesia.