[PDF] Glut 1 deficiency

Source:
British Inherited Metabolic Disease Group
Publisher:
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
01 February 2012

Abstract

Children with GLUT1 deficiency have an impaired glucose transport into the brain and glucose  levels in CSF are low (hypoglychorrhachia). As a result, seizures and secondary microcephaly  are common. The main aim of treatment is to provide an alternative fuel for the brain. Ketone bodies can  cross the blood brain barrier and provide an alternative energy source so the children are treated with a ketogenic diet. On this diet the aim should be to maintain blood ketone bodies above 2.0mmol/l, with urinary ketone levels around 4-8 mmol/l. 

Last reviewed in June 2014