入院下に埋伏智歯抜歯を行ったグルコーストランスポーター1欠損症患者の1例
Glucose transporter 1 (GLUT-1) deficiency is a rare metabolic disorder of the brain caused by mutations of GLUT-1 gene and inefficient use of glucose. In this disease, ketogenic diet therapy is necessary to supply ketone bodies instead of glucose as the energy source of the brain. We report a patien...
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| Published in | 日本口腔外科学会雑誌 Vol. 66; no. 8; pp. 366 - 370 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
社団法人 日本口腔外科学会
20.08.2020
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0021-5163 2186-1579 |
| DOI | 10.5794/jjoms.66.366 |
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| Abstract | Glucose transporter 1 (GLUT-1) deficiency is a rare metabolic disorder of the brain caused by mutations of GLUT-1 gene and inefficient use of glucose. In this disease, ketogenic diet therapy is necessary to supply ketone bodies instead of glucose as the energy source of the brain. We report a patient with GLUT-1 deficiency who was hospitalized and underwent third molar extraction. This is the first such report in the field of oral and maxillofacial surgery. There was no problem with preoperative starvation testing. Therefore, we performed the operation with the patient under general anesthesia. His teeth were extracted successfully without any complications such as convulsive attacks, hypoglycemia, or unexpected blood levels of ketone bodies. When we treat patients with GLUT-1 deficiency, it is important to closely cooperate with pediatricians, anesthesiologists, pharmacists, and dieticians in the perioperative management of patients. |
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| AbstractList | Glucose transporter 1 (GLUT-1) deficiency is a rare metabolic disorder of the brain caused by mutations of GLUT-1 gene and inefficient use of glucose. In this disease, ketogenic diet therapy is necessary to supply ketone bodies instead of glucose as the energy source of the brain. We report a patient with GLUT-1 deficiency who was hospitalized and underwent third molar extraction. This is the first such report in the field of oral and maxillofacial surgery. There was no problem with preoperative starvation testing. Therefore, we performed the operation with the patient under general anesthesia. His teeth were extracted successfully without any complications such as convulsive attacks, hypoglycemia, or unexpected blood levels of ketone bodies. When we treat patients with GLUT-1 deficiency, it is important to closely cooperate with pediatricians, anesthesiologists, pharmacists, and dieticians in the perioperative management of patients. |
| Author | 由良, 義明 鵜澤, 成一 濱田, 正和 元木, 彩子 西山, 今日子 清水, 英孝 |
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| References | 2) Thorens B and Mueckler M : Glucose transporters in the 21st Century. Am J Physiol Endocrinol Metab 298: E141-145, 2010. 14) Swink TD, Vining EP, et al : The ketogenic diet: 1997. Adv Pediatr 44: 297-329, 1997. 6) 石原尚子：【小児疾患の診断治療基準 (第4版)】(第2部) 疾患 神経疾患 糖輸送体1異常症 (グルコーストランスポーター1異常症)．小児内科 44: 738-739, 2012. 9) Ito Y, Takahashi S, et al : Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain Dev 37: 780-789, 2015. 8) Larsen J, Johannesen KM, et al : The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 56: e203-208, 2015. 3) Hebert DN and Carruthers A : Glucose transporter oligomeric structure determines transporter function. Reversible redox-dependent interconversions of tetrameric and dimeric GLUT1. J Biol Chem 267: 23829-2338, 1992. 11) Klepper J : Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 49: 46-49, 2008. 17) Kossoff EH and Dorward JL : The modified Atkins diet. Epilepsia 49: 37-41, 2008. 23) Adeva-Andany MM, Calvo-Castro I, et al : Significance of l-carnitine for human health. IUBMB Life 69: 578-594, 2017. 22) Longo N, Frigeni M, et al : Carnitine transport and fatty acid oxidation. Biochim Biophys Acta 1863: 2422-2435, 2016. 5) Leen WG, Klepper J, et al : Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133:655-670, 2010. 12) Gumus H, Bayram AK, et al : The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome. Neuropediatrics 46: 313-320, 2015. 20) Manninen AH : Metabolic effects of the very-low-carbohydrate diets: misunderstood“ villains” of human metabolism. J Int Soc Sports Nutr 1: 7-11, 2004. 24) 樋坂章博， 伊藤晃成：代謝酵素が関係した相互作用 カルバペネム系・ペネム系抗菌薬とバルプロ酸 (解説 / 特集) 薬局 61: 2822-2828, 2010. 15) Vamecq J, Vallée L, et al : Antiepileptic popular ketogenic diet: emerging twists in an ancient story. Prog Neurobiol 75: 1-28, 2005. 1) Augustin R : The protein family of glucose transport facilitators: It’s not only about glucose after all. IUBMB Life 62: 315-333, 2010. 18) 今井克美， 高山留美子， 他：難治性てんかんとケトン食療法．臨栄 122: 546-549, 2013. 10) Tang M, Gao G, et al : Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. Nat Commun 8: 14152, 2017. 16) Kossoff EH and Wang HS : Dietary therapies for epilepsy. Biomed J 36: 2-8, 2013. 19) 青天目信：【けいれん性疾患の最新の治療】 急性期 けいれんを呈する代謝異常増悪期の治療．小児診療 78: 183-189, 2015. 7) 伊藤 康 , 小国弘量：【神経症候群 (第2版)−その他の神経疾患を含めて−】 てんかん症候群 その他の重要な病態 グルコーストランスポーター1 (GLUT-1) 欠損症症候群．日本臨床 別冊神経症候群 VI: 464-467, 2014. 21) Nakagama Y, Isojima T, et al : Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency? Acta Paediatr 101: e259-262, 2012. 25) 井上雅貴， 河村正成， 他：ピボキシル基を有するセフェム系抗生物質の長期投与により低カルニチン血症を呈した一例．秋田医師会誌 63: 44-49, 2012. 13) Brockmann K, Wang D, et al : Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 50: 476-485, 2001. 4) De Vivo DC, Trifiletti RR, et al : Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325: 703-709, 1991. |
| References_xml | – reference: 8) Larsen J, Johannesen KM, et al : The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. Epilepsia 56: e203-208, 2015. – reference: 12) Gumus H, Bayram AK, et al : The Effects of Ketogenic Diet on Seizures, Cognitive Functions, and Other Neurological Disorders in Classical Phenotype of Glucose Transporter 1 Deficiency Syndrome. Neuropediatrics 46: 313-320, 2015. – reference: 17) Kossoff EH and Dorward JL : The modified Atkins diet. Epilepsia 49: 37-41, 2008. – reference: 4) De Vivo DC, Trifiletti RR, et al : Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325: 703-709, 1991. – reference: 20) Manninen AH : Metabolic effects of the very-low-carbohydrate diets: misunderstood“ villains” of human metabolism. J Int Soc Sports Nutr 1: 7-11, 2004. – reference: 25) 井上雅貴， 河村正成， 他：ピボキシル基を有するセフェム系抗生物質の長期投与により低カルニチン血症を呈した一例．秋田医師会誌 63: 44-49, 2012. – reference: 2) Thorens B and Mueckler M : Glucose transporters in the 21st Century. Am J Physiol Endocrinol Metab 298: E141-145, 2010. – reference: 21) Nakagama Y, Isojima T, et al : Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency? Acta Paediatr 101: e259-262, 2012. – reference: 9) Ito Y, Takahashi S, et al : Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. Brain Dev 37: 780-789, 2015. – reference: 22) Longo N, Frigeni M, et al : Carnitine transport and fatty acid oxidation. Biochim Biophys Acta 1863: 2422-2435, 2016. – reference: 16) Kossoff EH and Wang HS : Dietary therapies for epilepsy. Biomed J 36: 2-8, 2013. – reference: 14) Swink TD, Vining EP, et al : The ketogenic diet: 1997. Adv Pediatr 44: 297-329, 1997. – reference: 5) Leen WG, Klepper J, et al : Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 133:655-670, 2010. – reference: 1) Augustin R : The protein family of glucose transport facilitators: It’s not only about glucose after all. IUBMB Life 62: 315-333, 2010. – reference: 7) 伊藤 康 , 小国弘量：【神経症候群 (第2版)−その他の神経疾患を含めて−】 てんかん症候群 その他の重要な病態 グルコーストランスポーター1 (GLUT-1) 欠損症症候群．日本臨床 別冊神経症候群 VI: 464-467, 2014. – reference: 15) Vamecq J, Vallée L, et al : Antiepileptic popular ketogenic diet: emerging twists in an ancient story. Prog Neurobiol 75: 1-28, 2005. – reference: 19) 青天目信：【けいれん性疾患の最新の治療】 急性期 けいれんを呈する代謝異常増悪期の治療．小児診療 78: 183-189, 2015. – reference: 13) Brockmann K, Wang D, et al : Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. Ann Neurol 50: 476-485, 2001. – reference: 18) 今井克美， 高山留美子， 他：難治性てんかんとケトン食療法．臨栄 122: 546-549, 2013. – reference: 11) Klepper J : Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 49: 46-49, 2008. – reference: 23) Adeva-Andany MM, Calvo-Castro I, et al : Significance of l-carnitine for human health. IUBMB Life 69: 578-594, 2017. – reference: 3) Hebert DN and Carruthers A : Glucose transporter oligomeric structure determines transporter function. Reversible redox-dependent interconversions of tetrameric and dimeric GLUT1. J Biol Chem 267: 23829-2338, 1992. – reference: 6) 石原尚子：【小児疾患の診断治療基準 (第4版)】(第2部) 疾患 神経疾患 糖輸送体1異常症 (グルコーストランスポーター1異常症)．小児内科 44: 738-739, 2012. – reference: 24) 樋坂章博， 伊藤晃成：代謝酵素が関係した相互作用 カルバペネム系・ペネム系抗菌薬とバルプロ酸 (解説 / 特集) 薬局 61: 2822-2828, 2010. – reference: 10) Tang M, Gao G, et al : Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein. Nat Commun 8: 14152, 2017. |
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| SubjectTerms | グルコーストランスポーター1欠損症 ケトン食 智歯抜歯 |
| Title | 入院下に埋伏智歯抜歯を行ったグルコーストランスポーター1欠損症患者の1例 |
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