CASE REPORT

You have full text access to this OnlineOpen article

Milder phenotypes of glucose transporter type 1 deficiency syndrome

  1. GEETHA ANAND1,
  2. ANURUDDHA PADENIYA1,
  3. DONNCHA HANRAHAN2,
  4. HANS SCHEFFER3,
  5. ZENOBIA ZAIWALLA1,
  6. DEBBIE COX1,
  7. NICHOLAS MANN4,
  8. JOHN HEWERTSON5,
  9. SUE PRICE5,
  10. ANDREA NEMETH6,
  11. TODOR ARSOV7,
  12. INGRID SCHEFFER8,
  13. SANDEEP JAYAWANT1,
  14. MICHAEL PIKE1,
  15. TONY MCSHANE1

Article first published online: 24 MAR 2011

DOI: 10.1111/j.1469-8749.2011.03949.x

Issue

Developmental Medicine & Child Neurology

Developmental Medicine & Child Neurology

Volume 53, Issue 7, pages 664–668, July 2011

Additional Information

How to Cite

ANAND, G., PADENIYA, A., HANRAHAN, D., SCHEFFER, H., ZAIWALLA, Z., COX, D., MANN, N., HEWERTSON, J., PRICE, S., NEMETH, A., ARSOV, T., SCHEFFER, I., JAYAWANT, S., PIKE, M. and MCSHANE, T. (2011), Milder phenotypes of glucose transporter type 1 deficiency syndrome. Developmental Medicine & Child Neurology, 53: 664–668. doi: 10.1111/j.1469-8749.2011.03949.x

Author Information

  1. 1

     Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.

  2. 2

     Department of Paediatric Neurology, Royal Belfast Hospital for Sick Children, Belfast, Northern Ireland, UK.

  3. 3

     Division of DNA-diagnostics, Department of Human Genetics, Radboud University Nijmegen Medical Centre, the Netherlands.

  4. 4

     Department of Paediatrics, Royal Berkshire Hospital, Reading, UK.

  5. 5

     Department of Paediatrics, Northampton General Hospital, Northampton, UK.

  6. 6

     Department of Genetics, Churchill Hospital, Oxford, UK.

  7. 7

     Molecular Genetics Laboratory, Department of Medicine, The University of Melbourne, Australia.

  8. 8

     Royal Children’s Hospital, The University of Melbourne, Australia.

*Dr Geetha Anand, Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK. E-mail: anandgeetha97@gmail.com

Publication History

  1. Issue published online: 7 JUN 2011
  2. Article first published online: 24 MAR 2011
  3. PUBLICATION DATA Accepted for publication 1st February 2011 Published online 24th March 2011.

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

View Full Article with Supporting Information (HTML) Get PDF (813K)

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.

View Full Article with Supporting Information (HTML) Get PDF (813K)