A Case Report of Glucose Transporter 1 Deficiency Syndrome with a Novel Splice Site Mutation (SLC2A1: c.680-2delA)
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Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood.brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low cerebrospinal glucose concentration (hypoglycorrhachia). A diagnosis of GLUT1-DS is biochemically established in neurologically impaired patients with hypoglycorrhachia in the normoglycemia. GLUT1-DS can be confirmed by mutation analysis of the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene or reduced 3-O-methyl-D-glucose uptake into erythrocytes. The patient was a 12-year-old boy born at term. He had experienced seizures from 4 months of age. Electroencephalography (EEG) did not show epileptiform activity. Brain magnetic resonance imaging (MRI) revealed mild diffuse cortical atrophy and ventricular dilatation. Furthermore, he showed developmental delay, mental retardation, and ataxia, which all became more apparent with age progression. For 7 years, he had experienced paroxysmal episodes of atonic behavioral changes that were aggravated before meals or when he became tired. When he was 12 years old, cerebrospinal fluid (CSF) analysis revealed a low glucose concentration in the normal serum glucose and lactate levels. Under the impression of GLUT1-DS, mutation analysis of the SLC2A1 gene by direct sequencing was performed using white blood cells, and c.680-2delA of intron 5 was found. We describe a GLUT1-DS patient with a typical natural history of GLUT1-DS through a long term follow-up visits, with a novel splice site mutation (SLC2A1: c.6802delA).
Abstract
Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood.brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low cerebrospinal glucose concentration (hypoglycorrhachia). A diagnosis of GLUT1-DS is biochemically established in neurologically impaired patients with hypoglycorrhachia in the normoglycemia. GLUT1-DS can be confirmed by mutation analysis of the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene or reduced 3-O-methyl-D-glucose uptake into erythrocytes. The patient was a 12-year-old boy born at term. He had experienced seizures from 4 months of age. Electroencephalography (EEG) did not show epileptiform activity. Brain magnetic resonance imaging (MRI) revealed mild diffuse cortical atrophy and ventricular dilatation. Furthermore, he showed developmental delay, mental retardation, and ataxia, which all became more apparent with age progression. For 7 years, he had experienced paroxysmal episodes of atonic behavioral changes that were aggravated before meals or when he became tired. When he was 12 years old, cerebrospinal fluid (CSF) analysis revealed a low glucose concentration in the normal serum glucose and lactate levels. Under the impression of GLUT1-DS, mutation analysis of the SLC2A1 gene by direct sequencing was performed using white blood cells, and c.680-2delA of intron 5 was found. We describe a GLUT1-DS patient with a typical natural history of GLUT1-DS through a long term follow-up visits, with a novel splice site mutation (SLC2A1: c.6802delA).
참고문헌 (13)
- Klepper J, "Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter-protein syndrome", J Clin Lab Anal, 13, pp.116~121 (1999)
- Klepper J, "Facilitated glucose transporter protein type 1(GLUT1)deficiency syndrome : impaired glucose transport into brain--a review", Eur J Pediatr, 161, pp.295~304 (2002)
- De Vivo DC, "Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay", N Engl J Med, 325, pp.703~709 (1991)
- Verrotti A, "Glut1 deficiency : when to suspect and how to diagnose?", Eur J Paediatr Neurol, 16, pp.3~9 (2012)
- Vannucci SJ, "Glucose transporter proteins in brain : delivery of glucose to neurons and glia", Glia, 21, pp.2~21 (1997)
- Mueckler M, "Sequence and structure of a human glucose transporter", Science, 229, pp.941~945 (1985)
- Spector R, "Nutrient transport systems in brain : 40 years of progress", J Neurochem, 111, pp.315~320 (2009)
- Klepper J, "GLUT1-deficiency syndrome–2007update", Dev Med Child Neurol, 49, pp.707~716 (2007)
- Wang D, "Glut1 deficiency syndrome : clinical, genetic, and therapeutic aspects", Ann Neurol, 57, pp.111~118 (2005)
- Ito S, "Modified Atkins diet therapy for a case with glucose transporter type 1deficiency syndrome", Brain Dev, 30, pp.226~228 (2008)
- Woo SB, "First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation", Gene, 506, pp.380~382 (2012)
- Brockmann K, "The expanding phenotype of GLUT1-deficiency syndrome", Brain Dev, 31, pp.545~552 (2009)
- Leen WG, "Glucose transporter-1 deficiency syndrome : the expanding clinical and genetic spectrum of a treatable disorder", Brain, 133, pp.655~670 (2010)