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248 Novel Mutation Causing Glucose 1 Transporter Deficiency Syndrome
  1. DK Gandhi,
  2. R Gupta
  1. Paediatric Neurology, Birmingham Children’s Hospital, Birmingham, UK

Abstract

Introduction Glucose transporter-1 (GLUT1) deficiency syndrome (OMIM #606777) is an autosomal dominant condition resulting in reduced glucose transport into the brain. GLUT1 deficiency syndrome was first described in 1991 by De Vivo et al. The diagnostic finding is a low glucose concentration in the cerebrospinal fluid (CSF; mean 1.7 [SD 0.3mmol/L]) in the presence of normoglycaemia. GLUT1 deficiency syndrome can be confirmed by mutation analysis of the SLC2A1 gene. The spectrum is ever expanding with new mutations as also varying presentations. We present one such novel mutation.

Case report A Caucasian male was referred to the neurology department with global developmental delay, head nods, seizures and excessive daytime sleepiness. Over the years he had many investigations including repeated MRIs and EEGs and investigations for conditions with progressive myoclonic epilepsy. At the age of 14 years the parents gave a history of food intake reducing his head nods and other seizure types. He was then investigated for possible GLUT1 deficiency.

Results The initial investigations revealed a CSF sugar of 2.4 when the blood sugar was 5.9 (ratio of 0.4) which was low but not low enough for GLUT1 deficiency. Genetic testing revealed a mutation in the Exon 5 of the SLC2A gene c.647T>C (p.lle216Thr) not previuosly reported.

Conclusion GLUT1 deficiency should be suspected in a child with developmental delay, epilepsy and movement disorder. Novel mutations can result in the condition. Our case is one such example for novel mutation as well as refusal of ketogenic diet from late diagnosis.

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