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Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1

Hyun Hee Lee1, Yun Jung Hur1

  • 1Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea.

Korean Journal of Pediatrics
|December 27, 2016
PubMed

Insights

Glucose transporter 1 (GLUT-1) deficiency, a rare genetic disorder, causes severe epilepsy and developmental delays. This case highlights a new mutation in the SLC2A1 gene, emphasizing the need for early diagnosis and genetic testing.

Area of Science:

  • Genetics
  • Neurology
  • Metabolic Disorders

Background:

  • Glucose transporter 1 (GLUT-1) deficiency is a rare genetic syndrome.
  • It is characterized by early-onset intractable epilepsy, developmental delay, and movement disorders.
  • Mutations in the SLC2A1 gene are the underlying cause, with specific hot spots identified.

Purpose of the Study:

  • To report a case of GLUT-1 deficiency presenting with infantile spasms and developmental delay.
  • To investigate the genetic basis of the condition in this patient.
  • To contribute to the understanding of SLC2A1 mutations and their clinical manifestations.

Main Methods:

  • Clinical case description including symptoms and developmental milestones.
  • Metabolic workup including cerebrospinal fluid (CSF) analysis.
  • Bidirectional sequencing of the SLC2A1 gene to identify mutations.

Main Results:

  • The patient presented with infantile spasms and delayed development at 6 months of age.
  • Intractable epilepsy persisted despite aggressive antiepileptic drug therapy.
  • CSF analysis revealed a low CSF-glucose-to-blood-glucose ratio (0.38) with normal lactate.
  • SLC2A1 sequencing identified a novel missense mutation (c.1198C>T, p.Arg400Cys) in exon 9.

Conclusions:

  • This case illustrates a new SLC2A1 mutation causing GLUT-1 deficiency.
  • Early identification of GLUT-1 deficiency is crucial for timely intervention.
  • Genetic analysis of SLC2A1 is essential for diagnosing this rare syndrome.

Keywords:
GLUT-1 deficiency syndromeInfantile spasmSLC2A1 protein

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