Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1.
10.3345/kjp.2016.59.11.S29
- Author:
Hyun Hee LEE
1
;
Yun Jung HUR
Author Information
1. Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea. H00105@paik.ac.kr
- Publication Type:Case Report
- Keywords:
GLUT-1 deficiency syndrome;
Infantile spasm;
SLC2A1 protein
- MeSH:
Cerebrospinal Fluid;
Codon;
Drug Resistant Epilepsy;
Drug Therapy;
Exons*;
Glucose Transport Proteins, Facilitative;
Glucose Transporter Type 1;
Glucose*;
Humans;
Infant;
Infant, Newborn;
Lactic Acid;
Movement Disorders;
Mutation, Missense;
Myoclonus;
Seizures;
Spasms, Infantile*
- From:Korean Journal of Pediatrics
2016;59(Suppl 1):S29-S31
- CountryRepublic of Korea
- Language:English
-
Abstract:
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.
