Milder phenotypes of glucose transporter type 1 deficiency syndrome

• DOI: 10.1111/j.1469-8749.2011.03949.x
• Publication Date: 2011-03-24T15:23:16Z
• Authors: GEETHA ANAND; ANURUDDHA PADENIYA; DONNCHA HANRAHAN; HANS SCHEFFER; ZENOBIA ZAIWALLA; DEBBIE COX; NICHOLAS MANN; JOHN HEWERTSON; SUE PRICE; ANDREA NEMETH; TODOR ARSOV; INGRID SCHEFFER; SANDEEP JAYAWANT; MICHAEL PIKE; TONY MCSHANE
• Keywords: Paroxysmal dyskinesia; Movement Disorders

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a treatable condition resulting from impaired glucose transport into the brain. The classical presentation with infantile-onset epilepsy and severe developmental delay. Non-classical phenotypes movement disorders early-onset absence are increasingly recognized clinical spectrum expanding. hallmark hypoglycorrhachia (cerebrospinal fluid [CSF] glucose<2.2mmol/l) in presence of normoglycaemia CSF/blood ratio less than 0.4. GLUT1DS due to mutation solute carrier family 2, member gene (SLC2A1). We present five individuals (four males, one female), all whom had mild phenotype, highlighting importance considering this diagnosis unexplained neurological associated learning difficulties, subtle motor delay, epilepsy, fluctuating gait disorders, and/or dystonia. mean age at was 8 years months. This paper also shows phenotypical parallels between paroxysmal exertion-induced dyskinesia.