First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation.
Glucose transporter type 1 deficiency syndrome (Glut-1DS) is caused by autosomal dominant haplodeficiency or autosomal recessive with homozygous mutation of the glucose transporter 1 (SLC2A1) gene and is characterized by severe seizures, developmental delay, ataxia and acquired microcephaly. We describe the first known Korean patient with glucose transporter 1 deficiency syndrome, who had a novel mutation in the splice site. The patient began having intractable seizures at 4 days of age that initially presented as eye blinking and apnea, evolving into generalized tonic seizures. A lumbar puncture revealed low glucose concentration in the cerebrospinal fluid (CSF) in the setting of normoglycemia (blood glucose, 106 mg/dl; CSF glucose 21 mg/dl, and CSF to blood glucose ratio 0.20). The results of a 3-O-methylglucose uptake study in erythrocytes (RBC) revealed that glucose uptake reduced to 48% of his parents in the patient. The patient responded to a ketogenic diet that was initiated at 4 months of age and currently is on the modified Atkins diet (MAD) without seizures. He does not require antiepileptic medication. We diagnosed the first Glut-1 patient in Korea with a novel splice site mutation on the basis of clinical features, deficient glucose uptake and a mutation in the SLC2A1 gene.
Department of Pediatrics, Hallym University College of Medicine, Seoul, Republic of Korea.
Sat Byul
SB
Woo
Kon-Hee
KH
Lee
Hoon-Chul
HC
Kang
Hong
H
Yang
Darryl C
DC
De Vivo
Sung Koo
SK
Kim
D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D004912:Erythrocytes / Q000166:cytology; D005192:Family Health; D005260:Female; D005947:Glucose / Q000378:metabolism; D051272:Glucose Transporter Type 1 / Q000172:deficiency* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007723:Korea; D008297:Male; D009154:Mutation; D012326:RNA Splicing; D013577:Syndrome; D013997:Time Factors
D051272:Glucose Transporter Type 1; C495677:SLC2A1 protein, human; D005947:Glucose