Title
GLUT1 Deficiency Syndrome: survey of clinical presentation in the UK and Ireland
Lead Clinician
Dr Neti A. Gayatri
Dept of Paediatric Neurology, Leeds General Infirmary
Great George Street
Leeds LS1 3ES
Tel :
Additional investigators:
Dr Anthony R. Hart. NICU, Sheffield Teaching Hospitals NHS Trust
Disease name
GLUT1 Deficiency Syndrome
Case Definition
Clinical and biochemical diagnosis of GLUT1 deficiency based on a combination of compatible clinical features, hypoglycorrhachia (fasting glucose ration CSF/blood <0.45) in the setting of low or normal cerebral spinal fluid lactate levels and normoglycaemia. Absence of an identified genetic defect is not necessarily an exclusion criterion if there is lack of evidence for another neurological disorder.
Age range for cases: All children under 16 years of age
Inclusion Criteria
Clinical and biochemical diagnosis of GLUT1 deficiency
Exclusion Criteria
Any other condition known to cause hypoglycorrhachia such as known CSF infection, subarachnoid haemorrhage, prolonged status epilepticus, meningeal sarcoidosis, cysticercosis and trichinoisis, lupus myelopathy.
Individuals whose CSF: Plasma glucose ratio is low but CSF glucose is normal (over 2.2 mmol/l), in whom it was suspected that the blood glucose level was taken following lumbar puncture.