Cited 6 times in
First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation
DC Field | Value | Language |
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dc.contributor.author | 강훈철 | - |
dc.date.accessioned | 2020-07-27T16:42:18Z | - |
dc.date.available | 2020-07-27T16:42:18Z | - |
dc.date.issued | 2012-09 | - |
dc.identifier.issn | 0378-1119 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/178468 | - |
dc.description.abstract | 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. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Elsevier/North-Holland | - |
dc.relation.isPartOf | GENE | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Carbohydrate Metabolism, Inborn Errors / blood | - |
dc.subject.MESH | Carbohydrate Metabolism, Inborn Errors / diagnosis | - |
dc.subject.MESH | Carbohydrate Metabolism, Inborn Errors / genetics* | - |
dc.subject.MESH | Erythrocytes / cytology | - |
dc.subject.MESH | Family Health | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Glucose / metabolism | - |
dc.subject.MESH | Glucose Transporter Type 1 / deficiency* | - |
dc.subject.MESH | Glucose Transporter Type 1 / genetics* | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Infant, Newborn | - |
dc.subject.MESH | Korea | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | RNA Splicing | - |
dc.subject.MESH | Syndrome | - |
dc.subject.MESH | Time Factors | - |
dc.title | First report of glucose transporter 1 deficiency syndrome in Korea with a novel splice site mutation | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Sat Byul Woo | - |
dc.contributor.googleauthor | Kon-Hee Lee | - |
dc.contributor.googleauthor | Hoon-Chul Kang | - |
dc.contributor.googleauthor | Hong Yang | - |
dc.contributor.googleauthor | Darryl C De Vivo | - |
dc.contributor.googleauthor | Sung Koo Kim | - |
dc.identifier.doi | 10.1016/j.gene.2012.06.095 | - |
dc.contributor.localId | A00102 | - |
dc.relation.journalcode | J00921 | - |
dc.identifier.eissn | 1879-0038 | - |
dc.identifier.pmid | 22814174 | - |
dc.identifier.url | https://www.sciencedirect.com/science/article/pii/S0378111912008098 | - |
dc.contributor.alternativeName | Kang, Hoon Chul | - |
dc.contributor.affiliatedAuthor | 강훈철 | - |
dc.citation.volume | 506 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 380 | - |
dc.citation.endPage | 382 | - |
dc.identifier.bibliographicCitation | GENE, Vol.506(2) : 380-382, 2012-09 | - |
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