Molecular basis of disorders in ketone body metabolism and regulation of genes involving in its metabolism

• Project/Area Number: 21591317
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Gifu University
• Principal Investigator: FUKAO Toshiyuki 岐阜大学, 医学系研究科, 教授 (70260578)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2009: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
• Keywords: 遺伝・先天異常学 / 人類遺伝 / 先天代謝異常 / ケトン / 先天代謝異常症 / β-ケトチオラーゼ欠損症 / サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ欠損症 / ケトアシドーシス / 遺伝子発現 / ケートアシドーシス

Research Abstract

We established MLPA analysis of ACAT1 and OXCT1 genes to improve molecular diagnosis of beta-ketothiolase(T2) deficiency and succinyl-CoA : 3-ketoacid CoA transferase deficiency, respectively. We published papers describing 1) T2 "mild" mutation and its effects on clinical(chemical) phenotype 2) clinical characterization of 5 SCOT deficient patients, their mutations, mutational effects on tertiary structure of SCOT molecules. We analyzed splicing order of SCOT transcript in controls and a patient of which SCOT mRNA had two exon skipping. We also analyzed liver-specific silencing of SCOT using Chip assay.

Research Products

• [Journal Article] Three Japanese patients with beta-ketothiolase deficiency whoshare a mutation, c. 431A> C(H144P) in ACAT1 : subtle abnormality in urinary organic acid analysis and blood acylvcarnitine analysis using tandem mass spectrometry. (2012)
  • Author(s): Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM<Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N
  • Journal Title: JIMD reports Volume: 3 Pages: 107-115
  • Peer Reviewed
• [Journal Article] Three Japanese patients with beta-ketothiolase deficiency whoshare amutation, c.431A>C(H144P) in ACAT1 : subtle abnormality in urinary organic acid analysis and blood acylvcarnitine analysis using tandem mass spectrometry (2012)
  • Author(s): 180. Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM< Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N
  • Journal Title: JIMD reports Volume: 3 Pages: 107-115
  • Peer Reviewed
• [Journal Article] Differences between human and rodent pancreatic islets : low pyruvate carboxylase, ATP citrate lyase and pyruvate carboxylation ; high glucose-stimulated acetoacetate in human pancreatic islets (2011)
  • Author(s): Macdonald MJ, Longacre MJ, Stoker SW, Kendrick MA, Thonpho A, Brown LJ, Hasan NM, Jitrapakdee S, Fukao T, Hanson MS, Fernandez LA, Odorico J
  • Journal Title: J Biol Chem Volume: 286 Pages: 18383-18396
  • Peer Reviewed
• [Journal Article] Clinical and molecular characterization of five patients with Succinyl-CoA : 3-ketoacid CoA transferase(SCOT) deficiency (2011)
  • Author(s): Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Varic I, Zabot M-T, Kondo N
  • Journal Title: Biochimica Biophysica Acta Molecular Basis of Disease Volume: 1812 Pages: 619-24
  • Peer Reviewed
• [Journal Article] Clinical and molecular characterization of five patients with Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency (2011)
  • Author(s): Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Varic I, Zabot M-T, Kondo N
  • Journal Title: Biochimica Biophysica Acta Volume: 1812 Issue: 5 Pages: 619-624
  • DOI: 10.1016/j.bbadis.2011.01.015
  • Peer Reviewed
• [Journal Article] カルニチンパルミトイルトランスフェラーゼ2欠損症のろ紙血血清のアシルカルニチンプロファイルの経時的変化 (2011)
  • Author(s): 久保田一生, 深尾敏幸, 堀友博, 小林弘典, 船戸道徳, 長谷川有紀, 山口清次, 近藤直実
  • Journal Title: 日本小児科学会雑誌 Volume: 115 Pages: 956-960
  • NAID: 10029385674
  • Peer Reviewed
• [Journal Article] A neonatal onset succinyl-CoA : 3-ketoacid CoA transferase(SCOT)-deficient patient with T435N and c. 658-666dupAACGTGATT p. N220_I222dup mutations in the OXCT1 gene (2010)
  • Author(s): Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T.
  • Journal Title: J Inherit Metab Dis Volume: 33 Pages: 636-636
  • Peer Reviewed
• [Journal Article] Carnitine palmitoyltransferase 2 deficiency : The time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation. (2010)
  • Author(s): Hori T, Fukao T, Kobayashi H, Teramoto T, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N
  • Journal Title: Tohoku J Exp Med Volume: 221 Pages: 191-195
  • NAID: 10027084985
  • Peer Reviewed
• [Journal Article] Lower Succinyl-CoA : 3-ketoacid-CoA Transferase(SCOT) and ATP Citrate Lyase In Pancreatic Islets of A Rat Model of Type 2 Diabetes : Knockdown of SCOT Inhibits Insulin Release In Rat Insulinoma Cells. (2010)
  • Author(s): Hasan NM, Longacre MJ, Seed-Ahmed M, Kendrick MA, Gu H, Ostenson CG, Fukao T, Macdonald MJ
  • Journal Title: Arch Biochem Biophys Volume: 499(1-2) Pages: 62-68
  • Peer Reviewed
• [Journal Article] A novel mutation(c. 951C> T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene. (2010)
  • Author(s): Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N
  • Journal Title: Mol Genet Metab Volume: 100 Pages: 339-344
  • Peer Reviewed
• [Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase(T2) deficiency (2010)
  • Author(s): Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TH, Niezen-Koning KE, Wanders RJA, de Koning T, Nguyen LT, Yamaguchi S, Kondo N
  • Journal Title: Mol Genet Metab Volume: 100(1) Pages: 37-41
  • Peer Reviewed
• [Journal Article] CpG islands around exon 1 in Succinyl-CoA : 3-ketoacid CoA transferase(SCOT) gene were hypomethylated even in human and mouse hepatic tissues where SCOT gene expression was completely suppressed. (2010)
  • Author(s): Fukao T, Zhang G, Matsuo N, Kondo N
  • Journal Title: Molecular Medicine Reports Volume: 3 Pages: 355-359
  • Peer Reviewed
• [Journal Article] Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations. (2010)
  • Author(s): Thummler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D
  • Journal Title: Tohoku J Exp Med Volume: 220 Pages: 27-31
  • NAID: 10027082920
  • Peer Reviewed
• [Journal Article] A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl?CoA thiolase gene (2010)
  • Author(s): Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N
  • Journal Title: Mol Genet Metab Volume: 100 Pages: 39-344
  • Peer Reviewed
• [Journal Article] Lower Succinyl-CoA : 3-ketoacid-CoA Transferase (SCOT) and ATP Citrate Lyase In Pancreatic Islets of A Rat Model of Type 2 Diabetes : Knockd own of SCOT Inhibits Insulin Release In Rat Insulinoma Cells. (2010)
  • Author(s): Hasan NM, Longacre MJ, Seed-Ahmed M, Kendrick MA, Gu H, Ostenson CG, Fukao T, Macdonald MJ.
  • Journal Title: Arch Biochem Biophys. Volume: 499 Pages: 62-68
  • Peer Reviewed
• [Journal Article] A neonatal onset succinyl-CoA : 3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene. (2010)
  • Author(s): Fukao T, Ishii T, Amano N, Kursula P, Takayanagi M, Murase K, Sakaguchi N, Kondo N, Hasegawa T.
  • Journal Title: J Inherit Metab Dis Volume: 33 Pages: 636-636
  • Peer Reviewed
• [Journal Article] Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations. (2010)
  • Author(s): Thummler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D
  • Journal Title: Tohoku J Exp Med 220 Pages: 27-31
  • Peer Reviewed
• [Journal Article] CpG islands around exon 1 in Succinyl-CoA : 3-ketoacid CoA transferase (SCOT) gene were hypomethylated even in human and mouse hepatic tissues where SCOT gene expression was completely suppressed. (2010)
  • Author(s): Fukao T, Zhang G, Matsuo N, Kondo N
  • Journal Title: Molecular Medicine Reports 3 Pages: 335-359
  • Peer Reviewed
• [Journal Article] Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency. (2009)
  • Author(s): Purevsuren J, Fukao T, Hasegawa Y, Fukuda S, Kobayashi H, Yamaguchi S
  • Journal Title: Mol Genet Metab Volume: 98 Pages: 372-377
  • Peer Reviewed
• [Journal Article] Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes. (2009)
  • Author(s): Macdonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG
  • Journal Title: Diabetologia Volume: 52 Pages: 1087-1091
  • Peer Reviewed
• [Journal Article] Decreased levels of metabolic enzymes in pancreatic islets of patients with type 2 diabetes. (2009)
  • Author(s): Macdonald MJ, Longacre MJ, Langberg EC, Tibell A, Kendrick MA, Fukao T, Ostenson CG.
  • Journal Title: Diabetologia 52 Pages: 1087-1091
  • Peer Reviewed
• [Journal Article] A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) : c.449-452delCTGA is a common mutation in Japanese patients with MCADD. (2009)
  • Author(s): Purevsuren J, Kobayashi H, Hasegawa Y, Mushimoto Y, Li H, Fukuda S, Shigematsu Y, Fukao T, Yamaguchi S
  • Journal Title: Mol Genet Metab 96 Pages: 77-79
  • Peer Reviewed
• [Journal Article] Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency. (2009)
  • Author(s): Purevsuren J, Fukao T, Hasegawa Y, Fukuda S, Kobayashi H, Yamaguchi S.
  • Journal Title: Mol Genet Metab 98 Pages: 372-377
  • Peer Reviewed
• [Journal Article] (2009)
  • Author(s): 浦澤林太郎, 久保徹夫, 深尾敏幸
  • Journal Title: 症例から学ぶ先天代謝異常症～日常診療からのアプローチ～(診断と治療社) Pages: 100-102
• [Journal Article] A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency
  • Author(s): Fukao T, Nguyen HT, Nguyen NT, Vu DC, Can NTB, Pham ATV, Nguyen KN, Kobayashi H, Hasegawa Y, Bui TH, Niezen-Koning KE, Wanders RJA, de Koning T, Nguyen LT, Yamaguchi S, Kondo N
  • Journal Title: Mol Genet Metab (In press)
  • Peer Reviewed
• [Journal Article] A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene
  • Author(s): 169. Fukao T, Horikawa R, Naiki Y, Tanaka T, Takayanagi M, Yamaguchi S, Kondo N
  • Journal Title: Mol Genet Metab (In press)
  • Peer Reviewed
• [Presentation] 先天性ケトン体代謝異常症の発症形態と患者数の把握のための調査研究 (2011)
  • Author(s): 深尾敏幸
  • Organizer: 第14回中部出生前医療研究会
  • Place of Presentation: 名古屋
  • Year and Date: 2011-03-05
• [Presentation] 急性胃腸炎を契機に発見されたSCOT(サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ)欠損症の1例 (2011)
  • Author(s): 岡和田祥子、跡部真人、大木乃理子、後藤孝匡、廣瀬彬、山内豊浩、関根裕司、古田千左子、黒澤茶茶、勝又元、加藤寛幸、深尾敏幸
  • Organizer: 第251回日本小児科学会東海地方会
  • Place of Presentation: 名古屋
  • Year and Date: 2011-02-06
• [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断: MLPA法の確立とエクソン欠失、重複の検出 (2011)
  • Author(s): 深尾敏幸,堀友博,近藤直実
  • Organizer: 第53回日本先天代謝異常学会
  • Place of Presentation: 幕張
• [Presentation] 日本人HMG-CoAリアーゼ欠損症の臨床像:研究班におけるアンケート調査から (2011)
  • Author(s): 深尾敏幸、山口清次、高柳正樹、重松陽介、新宅治夫、堀川玲子
  • Organizer: 第53回日本先天代謝異常学会
  • Place of Presentation: 幕張
• [Presentation] 急性胃腸炎を契機に発見されたSCOT(サクシニル-CoA : 3-ケト酸CoAトランスフェラーゼ)欠損症の1例 (2011)
  • Author(s): 岡和田祥子,加藤寛幸,勝又元,古田千左子,関根裕司,山内豊浩,深尾敏幸
  • Organizer: 第53回日本先天代謝異常学会
  • Place of Presentation: 幕張
• [Presentation] SCOT hnRNAにおけるスプライシングオーダー:エクソン12と13をスキップする症例の解析 (2011)
  • Author(s): 堀友博,深尾敏幸, Paul M. Fernhoff, Cary Harding,近藤直実
  • Organizer: 第53回日本先天代謝異常学会
  • Place of Presentation: 幕張
• [Presentation] Establishment of MLPA method for ACAT1 gene and identification of intragene deletions and duplication caused by Alu sequence-mediated non-equal homologous recombination in beta-ketothiolase deficiency (2011)
  • Author(s): Fukao T, Hori T, Boneh A, Kondo N
  • Organizer: 2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Geneva, Swizerland
• [Presentation] HMG-CoA lyase deficiency in Japan : Question-based follow-up study (2011)
  • Author(s): Fukao T, Yamaguchi S, Takayanagi m, Shigematsu Y, Ishige M, Tanaka T, Takahashi T, Ihara T, Murakami J, Ohtsu Y, Onigata K, Kosaka K, Yorifuji T, Kondo N
  • Organizer: 2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Geneva, Swizerland
• [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断: MLPA法の確立とエクソン欠失、重複の検出 (2011)
  • Author(s): 深尾敏幸,堀友博,近藤直実
  • Organizer: 第114回日本小児科学会学術集会
  • Place of Presentation: 東京
• [Presentation] Establishment of MLPA method for ACAT1 gene and identification of in tragene deletions and duplication caused by Alu sequence-mediated nonequal homologous recombination in beta-ketothiolase deficiency (2011)
  • Author(s): Fukao T, Hori T, Boneh A, Kondo N
  • Organizer: Annual symposium of Society for the Study of In born Errors of Metabolism
  • Place of Presentation: Geneva, Swizerland
• [Presentation] HMG-CoA lyase deficiency in Japan : Questionnaire-based follow-up study (2011)
  • Author(s): Fukao T, Yamaguchi S, Takayanagi m, Shigematsu Y, Ishige M, Tanaka T, Takahashi T, Ihara T, Murakami J, Ohtsu Y, Onigata K, Kosaka K, Yorifuji T, Kondo N
  • Organizer: 2011 Annual symposium of Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Geneva, Swizerland
• [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断:MLPA法の確立とエクソン欠失、重複の検出 (2011)
  • Author(s): 深尾敏幸, 堀友博, 近藤直実
  • Organizer: 第114回日本小児科学会学術集会
  • Place of Presentation: 東京
• [Presentation] β-ケトチオラーゼ欠損症の遺伝子診断:MLPA法の確立とエクソン欠失、重複の検出 (2011)
  • Author(s): 深尾敏幸, 堀友博, 近藤直実
  • Organizer: 第53回日本先天代謝異常学会
  • Place of Presentation: 幕張
• [Presentation] 急性胃腸炎を契機に発見されたSCOT(サクシニルーCOA:3-ケト酸CoAトランスフェラーゼ)欠損症の1例 (2011)
  • Author(s): 岡和田祥子, 加藤寛幸, 勝又元, 古田千左子, 関根裕司, 山内豊浩, 深尾敏幸
  • Organizer: 第53回日本先天代謝異常学会
  • Place of Presentation: 幕張
• [Presentation] 「先天性ケトン体代謝異常症の発症形態と患者数の把握、診断指針に関する研究」先天性ケトン体代謝異常症(T2欠損症、SCOT欠損症)の診断指針.日本での診断された症例の検討から (2010)
  • Author(s): 深尾敏幸、山口清次、重松陽介、高柳正樹、新宅治夫、堀川玲子
  • Organizer: 第52回日本先天代謝異常学会総会
  • Place of Presentation: 大阪
• [Presentation] サクシニル-CoA : 3-ケト酸CoAトランスフェラーゼ(SCOT)欠損症5症例の検討 (2010)
  • Author(s): 深尾敏幸、堀友博、近藤直実
  • Organizer: 第52回日本先天代謝異常学会総会
  • Place of Presentation: 大阪
• [Presentation] 間欠的嘔吐、不機嫌で発症した男児遅発性OTC欠損症の1例 (2010)
  • Author(s): 堀友博、深尾敏幸、深澤佳絵、寺澤大祐、近藤直実
  • Organizer: 第52回日本先天代謝異常学会総会
  • Place of Presentation: 大阪
• [Presentation] Subtle abnormality in urinary organic acid and blood acylcarnitine profiles may result in misdiagnosis of beta-ketothiolase(T2) deficiency with mild mutations (2010)
  • Author(s): Fukao T, Maruyama S, Ohura T, Toyoshima M, Mushimoto Y, Kobayashi H, Hasegawa Y, Yamaguchi S, Kondo N
  • Organizer: 2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Istanbul, Turkey
• [Presentation] Clinical and molecular studies of five patients with succinyl-CoA : 3-ketoacid CoA transferase deficiency (2010)
  • Author(s): Fukao T, Sass, JO, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot M-T, Kondo N
  • Organizer: 2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism
  • Place of Presentation: Istanbul, Turkey
• [Presentation] Clinical and laboratory features of mitochondrial acetoacetyl-CoA thiolase(T2) deficiency in Viet Nam (2010)
  • Author(s): Nguyen Thi Hoan, Nguyen Ngoc Khanh, Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Khu Khanh Dung, Seiji Yamaguchi, Toshiyuki Fukao, Nguyen Thanh Liem
  • Organizer: The 1st Asian Congress for Inhetited Metabolic Diseases
  • Place of Presentation: Fukuoka, Japan
• [Presentation] A common mutation R208X identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase(T2) deficiency (2010)
  • Author(s): Toshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, Ngoc Thi Bich Can, Dung Chi Vu, Anh Thi Van Pham, Khanh Ngoc Nguyen, Hironori Kobayashi, Yuki Hasegawa, Thao Phuong Bui, Liem Thanh Nguyen, Seiji Yamaguchi, Naomi Kondo
  • Organizer: The 1st Asian Congress for Inhetited Metabolic Diseases
  • Place of Presentation: Fukuoka, Japan
• [Presentation] Subtle abnormality in urinary organic acid and blood acylcarnitine profiles may result in misdiagnosis of beta-ketothiolase (T2) deficiency with mild mutations. (2010)
  • Author(s): Fukao T, Maruyama S, Ohura T, Toyoshima M, Mushimoto Y, Kobayashi H, Hasegawa Y, Yamaguchi S, Kondo N.
  • Organizer: 2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
  • Place of Presentation: Istanbul, Turkey
• [Presentation] Clinical and molecular studies of five patients with succinyl-CoA : 3-ketoacid CoA transferase deficiency. 2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism. (2010)
  • Author(s): Fukao T, Sass, JO, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot M-T, Kondo N.
  • Organizer: 2010 Annual symposium of Society for the Study of Inborn Errors of Metabolism.
  • Place of Presentation: Istanbul, Turkey
• [Presentation] 「先天性ケトン体代謝異常症の発症形態と患者数の把握、診断指針に関する研究」班先天性ケトン体代謝異常症(T2欠損症、SCOT欠損症)の診断指針-日本での診断された症例の検討から (2010)
  • Author(s): 深尾敏幸、山口清次、重松陽介、高柳正樹、新宅治夫、堀川玲子
  • Organizer: 第52回日本先天代謝異常学会総会
  • Place of Presentation: 大阪
• [Presentation] サクシニル-CoA:3-ケト酸CoAトランスフェラーゼ(SCOT)欠損症5症例の検討 (2010)
  • Author(s): 深尾敏幸、堀友博、近藤直実
  • Organizer: 第52回日本先天代謝異常学会総会
  • Place of Presentation: 大阪
• [Presentation] 問欠的嘔吐、不機嫌で発症した男児遅発性OTC欠損症の1例 (2010)
  • Author(s): 堀友博、深尾敏幸、深澤佳絵、寺澤大祐、近藤直実:
  • Organizer: 第52回日本先天代謝異常学会総会
  • Place of Presentation: 大阪
• [Presentation] Clinical and laboratory features of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Viet Nam (2010)
  • Author(s): Nguyen Thi Hoan, Nguyen Ngoc Khanh, Vu Chi Dung, Bui Phuong Thao, Can Thi Bich Ngoc, Khu Khanh Dung, Seiji Yamaguchi, Toshiyuki Fukao, Nguyen Thanh Liem.\
  • Organizer: The 1st Asian Congress for Inhetited Metabolic Diseases.
  • Place of Presentation: Fukuoka
• [Presentation] A common mutation R208X identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. (2010)
  • Author(s): Toshiyuki Fukao, Hoan Thi Nguyen, Nhan Thu Nguyen, Ngoc Thi Bich Can, Dung ChiVu, Anh Thi Van Pham, Khanh Ngoc Nguyen, Hironori Kobayashi, Yuki Hasegawa, Thao Phuong Bui, Liem Thanh Nguyen, Seiji Yamaguchi, Naomi Kondo.
  • Organizer: The 1st Asian Congress for Inhetited Metabolic Diseases.
  • Place of Presentation: Fukuoka
• [Presentation] β-ケトチオラーゼ欠損症の分子病態: Exonic splicing enhancer変異の解析 (2009)
  • Author(s): 深尾敏幸,堀川玲子,内木康博,田中藤樹,近藤直実
  • Organizer: 第51回日本先天代謝異常学会総会
  • Place of Presentation: 東京
• [Presentation] An exonic splicing mutation identified in a beta-ketothiolase-deficient patient (2009)
  • Author(s): Fukao T, Naiki Y, Tanaka, Kondo N
  • Organizer: 11th International Congress of Inborn Errors of Metabolism
  • Place of Presentation: SanDiego, USA
• [Presentation] エクソン内1塩基置換により, Exonic splicing Enhancer配列に影響し,エクソンスキップを来したミトコンドリアアセトアセチル-CoAチオラーゼ(T2)の1症例 (2009)
  • Author(s): 深尾敏幸,近藤直実,内木康博,堀川玲子,田中藤樹
  • Organizer: 第54回日本人類遺伝学会
  • Place of Presentation: 東京
• [Presentation] An exonic splicing mutation identified in a beta-ketothiolase-deficient patient. (2009)
  • Author(s): Fukao T, Naiki Y, Tanaka, Kondo N.
  • Organizer: 11th International Congress of Inborn Errors of Metabolism
  • Place of Presentation: SanDiego, USA
• [Presentation] The Time-course of blood and urinary acylcarnitine levels during initial L-carnitine supplementation to a CPT2-deficient patient. (2009)
  • Author(s): Fukao T, Hori T, Teramoto T, Kobayashi H, Takayanagi M, Hasegawa Y, Yasuno T, Yamaguchi S, Kondo N.
  • Organizer: 11th International Congress of Inborn Errors of Metabolism
  • Place of Presentation: SanDiego, USA
• [Presentation] Clinical and molecular investigations of 5 Japanese patients with mitochondrial trifunctional protein deficiency. (2009)
  • Author(s): Purevsuren J, Fukao T, Hasegawa Y, Kobayashi H, Fukuda S, Yamaguchi S.
  • Organizer: 11th International Congress of Inborn Errors of Metabolism
  • Place of Presentation: SanDiego, USA
• [Presentation] エクソン内1塩基置換により,Exonic splicing Enhancer配列に影響し, エクソンスキップを来したミトコンドリアアセトアセチル-CoAチオラーゼ(T2)の1症例. (2009)
  • Author(s): 深尾敏幸, 近藤直実, 内木康博, 堀川玲子, 田中藤樹.
  • Organizer: 第54回日本人類遺伝学会
  • Place of Presentation: 東京
• [Presentation] β-ケトチオラーゼ欠損症の分子病態:Exonic splicing enhancer変異の解析. (2009)
  • Author(s): 深尾敏幸, 堀川玲子, 内木康博, 田中藤樹, 近藤直実
  • Organizer: 第51回日本先天代謝異常学会総会
  • Place of Presentation: 東京
• [Presentation] 同時に蓍しいケトアシドーシス発作を来した3歳の双生児例(T2遺伝子H144Pホモ接合体例). (2009)
  • Author(s): 丸山慎介, 豊島光雄, 鍬田直美, 深尾敏幸, 堀川玲子, 内木康博, 田中藤樹, 近藤直実,
  • Organizer: 第51回日本先天代謝異常学会総会
  • Place of Presentation: 東京
• [Book] Vii遺伝子検査の実際2)先天性代謝異常症:有波忠雄、太田敏子、清水淑子、福嶋亜紀子、三村邦裕編集メディカルサイエンス遺伝子検査学 (2012)
  • Author(s): 深尾敏幸
  • Publisher: 東京近代出版
• [Book] β-ケトチオラーゼ欠損症:山口清次編集有機酸代謝異常ガイドブックー臨床所見とGC/MSデータ解釈のノウハウ (2011)
  • Author(s): 深尾敏幸
  • Publisher: 東京,診断と治療社
• [Book] ケトン体代謝異常症:山口清次編集有機酸代謝異常ガイドブックー臨床所見とGC/MSデータ解釈のノウハウ (2011)
  • Author(s): 深尾敏幸
  • Publisher: 東京,診断と治療社
• [Book] 有機酸代謝異常ガイドブックー臨床所見とGC/MSデータ解釈のノウハウ分担執筆β-ケトチオラーゼ欠損症、ケトン体代謝異常症、3-ヒドロキシイソ酪酸尿症(山口清次編集) (2011)
  • Author(s): 深尾敏幸
  • Total Pages: 6
  • Publisher: 診断と治療社
• [Book] 有機酸代謝異常ガイドフッター臨床所見とGC/MSデータ解釈のノウハ分担執筆3-ヒドロキシジカルボン酸尿症、ケトン性ジカルボン酸尿症、ケトン性ジカルボン酸尿症(山口清次編集) (2011)
  • Author(s): 渡辺宏雄、深尾敏幸
  • Total Pages: 6
  • Publisher: 診断と治療社
• [Book] メディカルサイエンス遺伝子検査学分担執筆Vii遺伝子検査の実際2)先天性代謝異常症(有波忠雄、太田敏子、清水淑子、福嶋亜紀子、三村邦裕編集) (2011)
  • Author(s): 深尾敏幸
  • Total Pages: 7
  • Publisher: 近代出版
• [Book] 先天代謝異常症Diagnosis at a glance分担執筆リジン尿性蛋白不耐症、イソ吉草酸血症、CPT2欠損症(遠藤文夫,山口清次,高柳正樹,深尾敏幸,酒井規夫編集委員) (2011)
  • Author(s): 深尾敏幸
  • Total Pages: 6
  • Publisher: 診断と治療社
• [Book] ケトン体:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常 (2010)
  • Author(s): 深尾敏幸
  • Publisher: 東京,中山書店
• [Book] ケトーシス:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常 (2010)
  • Author(s): 深尾敏幸
  • Publisher: 東京,中山書店
• [Book] ケトン体利用異常症:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常 (2010)
  • Author(s): 深尾敏幸
  • Publisher: 東京,中山書店
• [Book] β-ケトチオラーゼ欠損症:高柳正樹専門編集小児科臨床ピクシス見逃せない先天代謝異常 (2010)
  • Author(s): 深尾敏幸
  • Publisher: 東京,中山書店
• [Book] 小児科臨床ピクシス見逃せない先天代謝異常分担執筆ケトン体、ケトーシス、ケトン体利用異常症、β-ケトチオラーゼ欠損症 (2010)
  • Author(s): 深尾敏幸
  • Total Pages: 14
  • Publisher: 中山書店
• [Book] 急性胃腸炎を契機に急激な意識障害を起こした9ヶ月男児:遠藤文夫,山口清次,高柳正樹,深尾敏幸編集委員.症例から学ぶ先天代謝異常症.日常診療からのアプローチ (2009)
  • Author(s): 浦澤林太郎,久保徹夫,深尾敏幸
  • Publisher: 東京診断と治療社
• [Remarks]
  • URL: http://www.ketone.jp/
• [Remarks]
  • URL: http://www.ketone.jp/