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Yıl 2005, Cilt 36, Sayı 2, 97 - 98, 01.03.2005

Öz

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Kaynakça

  • 1.Mitchell GA, Fukao T. Inborn errors of ketone body catabolism. In Metabolic and Molecular Bases of Inhereted Disease, 8 th edition. New York McGraw Hill,Inc, 2001, pp 2327-2356
  • 2. Revzani I, Rosenblatt D, Valine, Leucine, Isoleucine and Related Organic Acidemias, Nelson Textbook of Pediatrics In: Behrman RE, Kliegman, Jenson (eds) 17 th Edition.WB Saunders Company.Philadelphia 2004:409-418 3.Monastiri K, Amri F, Limam K, Kaabachi N,Guediche MN. Beta-Ketothiolase (2- methylacetoacetyl-CoA thiolase )deficiency: a frequent disease in Tunisia, J Inherit Metab Dis. 22:932-933,1999 4.Daum RS, Scriver CR, Mamer O A, Delvin E, Lamm PH, Goldman H. An inherited disorder of isoleucinecatabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta- hydroxybutyrate and intermittent metabolic acidosis. Pediatr Res 7:149-160, 1973 5.Fukao T.Beta-ketothiolase deficiency, Orphanet encylopedia, Semptember 2001 6.Leonard JV, Middiaton B, Seakins JW. Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. Pediatr Res 21:211-213,1987 7.Riudor E, Ribes A, Perez-Cerda C, Arranz JA, Mora J, Yeste D, Castello F, Christensan B, Sovik O. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency, J Inherit Metab Dis 18:748-749, 1995 8.Zachocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Progressive infantile neurodegeneration caused by 2-methyl- 3-hydroxybutyryl- CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine matabolism. Pedietr Res 48:852-855,2000 9.Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S,SongX-Q, Watanabe H, Kuhara T, Orii T, Kondo N. Mild form ofbeta-ketothiolase deficiency in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB- transformed lymphocytes. Clin Genet 50:263-266,1996 10.Henry CG, Strauss AW, Keating JP, Hillmann RE. Congestive cardiomyopathy associated with beta-ketothiolase deficiency. J Pediatr 1981; 99 :754-757

Beta-ketothiolaz eksikliği: Olgu sunumu

Yıl 2005, Cilt 36, Sayı 2, 97 - 98, 01.03.2005

Öz

Beta-ketothiolase deficiency is defect ofketone body and isoleucine metabolism. Mithocondrial acetoacetyl-CoA thiolase is responsible for the division of 2 methylacetoacetyl-CoA in isolasine methabolism, the formation of acetoacethyl-CoA in kethogenese and the division of acetoacetyl-CoA in ketolysis. This case was prepared to emphasize the importance of considering the Beta-ketotiolase deficiency for the diseases causing ketoacidosis which is resistant to the treatment.

Kaynakça

  • 1.Mitchell GA, Fukao T. Inborn errors of ketone body catabolism. In Metabolic and Molecular Bases of Inhereted Disease, 8 th edition. New York McGraw Hill,Inc, 2001, pp 2327-2356
  • 2. Revzani I, Rosenblatt D, Valine, Leucine, Isoleucine and Related Organic Acidemias, Nelson Textbook of Pediatrics In: Behrman RE, Kliegman, Jenson (eds) 17 th Edition.WB Saunders Company.Philadelphia 2004:409-418 3.Monastiri K, Amri F, Limam K, Kaabachi N,Guediche MN. Beta-Ketothiolase (2- methylacetoacetyl-CoA thiolase )deficiency: a frequent disease in Tunisia, J Inherit Metab Dis. 22:932-933,1999 4.Daum RS, Scriver CR, Mamer O A, Delvin E, Lamm PH, Goldman H. An inherited disorder of isoleucinecatabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta- hydroxybutyrate and intermittent metabolic acidosis. Pediatr Res 7:149-160, 1973 5.Fukao T.Beta-ketothiolase deficiency, Orphanet encylopedia, Semptember 2001 6.Leonard JV, Middiaton B, Seakins JW. Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. Pediatr Res 21:211-213,1987 7.Riudor E, Ribes A, Perez-Cerda C, Arranz JA, Mora J, Yeste D, Castello F, Christensan B, Sovik O. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency, J Inherit Metab Dis 18:748-749, 1995 8.Zachocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Progressive infantile neurodegeneration caused by 2-methyl- 3-hydroxybutyryl- CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine matabolism. Pedietr Res 48:852-855,2000 9.Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S,SongX-Q, Watanabe H, Kuhara T, Orii T, Kondo N. Mild form ofbeta-ketothiolase deficiency in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB- transformed lymphocytes. Clin Genet 50:263-266,1996 10.Henry CG, Strauss AW, Keating JP, Hillmann RE. Congestive cardiomyopathy associated with beta-ketothiolase deficiency. J Pediatr 1981; 99 :754-757

Beta-ketothiolaz eksikliği: Olgu sunumu

Yıl 2005, Cilt 36, Sayı 2, 97 - 98, 01.03.2005

Öz

Beta-ketothiolaz (mitokondrial asetoasetil-CoA thiolaz) eksikliği izolösin ve keton metaboliz¬masının bozukluğudur. Mitokondrial asetoasetil-CoA tiolaz, 2 metilasetoasetil-CoA'nm izolösin metabolizmasında bölünmesinden, asetoasetil-CoA'nm ketogenezdeki formasyonundan ve asetoasetil-CoA'nın ketolizdeki bölünmesinden sorumludur. Tedaviye dirençli ketoasidoza yol açan hastalıklar içersinde nadirde olsa B-ketothiolaz eksikliği düşünülmesi gerektiğini vurgulamak için bu olguyu sunmak istedik.

Kaynakça

  • 1.Mitchell GA, Fukao T. Inborn errors of ketone body catabolism. In Metabolic and Molecular Bases of Inhereted Disease, 8 th edition. New York McGraw Hill,Inc, 2001, pp 2327-2356
  • 2. Revzani I, Rosenblatt D, Valine, Leucine, Isoleucine and Related Organic Acidemias, Nelson Textbook of Pediatrics In: Behrman RE, Kliegman, Jenson (eds) 17 th Edition.WB Saunders Company.Philadelphia 2004:409-418 3.Monastiri K, Amri F, Limam K, Kaabachi N,Guediche MN. Beta-Ketothiolase (2- methylacetoacetyl-CoA thiolase )deficiency: a frequent disease in Tunisia, J Inherit Metab Dis. 22:932-933,1999 4.Daum RS, Scriver CR, Mamer O A, Delvin E, Lamm PH, Goldman H. An inherited disorder of isoleucinecatabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta- hydroxybutyrate and intermittent metabolic acidosis. Pediatr Res 7:149-160, 1973 5.Fukao T.Beta-ketothiolase deficiency, Orphanet encylopedia, Semptember 2001 6.Leonard JV, Middiaton B, Seakins JW. Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia. Pediatr Res 21:211-213,1987 7.Riudor E, Ribes A, Perez-Cerda C, Arranz JA, Mora J, Yeste D, Castello F, Christensan B, Sovik O. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency, J Inherit Metab Dis 18:748-749, 1995 8.Zachocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Progressive infantile neurodegeneration caused by 2-methyl- 3-hydroxybutyryl- CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine matabolism. Pedietr Res 48:852-855,2000 9.Fukao T, Kodama A, Aoyanagi N, Tsukino R, Uemura S,SongX-Q, Watanabe H, Kuhara T, Orii T, Kondo N. Mild form ofbeta-ketothiolase deficiency in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB- transformed lymphocytes. Clin Genet 50:263-266,1996 10.Henry CG, Strauss AW, Keating JP, Hillmann RE. Congestive cardiomyopathy associated with beta-ketothiolase deficiency. J Pediatr 1981; 99 :754-757

Ayrıntılar

Birincil Dil Türkçe
Bölüm Makaleler
Yazarlar

Öznur KILIÇ Bu kişi benim


Serdar CÖMERT Bu kişi benim


Gülay Çiler ERDAĞ Bu kişi benim


Yasemin AKIN Bu kişi benim


Semiramis SADIKOĞLU Bu kişi benim


Ayça VİTRİNEL Bu kişi benim

Yayımlanma Tarihi 1 Mart 2005
Yayınlandığı Sayı Yıl 2005, Cilt 36, Sayı 2

Kaynak Göster

Bibtex @ { zktipb236829, journal = {Zeynep Kamil Tıp Bülteni}, issn = {1300-7971}, eissn = {2148-4864}, address = {}, publisher = {Zeynep Kamil Kadın ve Çocuk Hastalıkları EAH}, year = {2005}, volume = {36}, pages = {97 - 98}, doi = {10.16948/zktb.04710}, title = {Beta-ketothiolaz eksikliği: Olgu sunumu}, key = {cite}, author = {Kılıç, Öznur and Cömert, Serdar and Erdağ, Gülay Çiler and Akın, Yasemin and Sadıkoğlu, Semiramis and Vitrinel, Ayça} }
APA Kılıç, Ö. , Cömert, S. , Erdağ, G. Ç. , Akın, Y. , Sadıkoğlu, S. & Vitrinel, A. (2005). Beta-ketothiolaz eksikliği: Olgu sunumu . Zeynep Kamil Tıp Bülteni , 36 (2) , 97-98 . Retrieved from https://dergipark.org.tr/tr/pub/zktipb/issue/22055/236829
MLA Kılıç, Ö. , Cömert, S. , Erdağ, G. Ç. , Akın, Y. , Sadıkoğlu, S. , Vitrinel, A. "Beta-ketothiolaz eksikliği: Olgu sunumu" . Zeynep Kamil Tıp Bülteni 36 (2005 ): 97-98 <https://dergipark.org.tr/tr/pub/zktipb/issue/22055/236829>
Chicago Kılıç, Ö. , Cömert, S. , Erdağ, G. Ç. , Akın, Y. , Sadıkoğlu, S. , Vitrinel, A. "Beta-ketothiolaz eksikliği: Olgu sunumu". Zeynep Kamil Tıp Bülteni 36 (2005 ): 97-98
RIS TY - JOUR T1 - Beta-ketothiolaz eksikliği: Olgu sunumu AU - Öznur Kılıç , Serdar Cömert , Gülay Çiler Erdağ , Yasemin Akın , Semiramis Sadıkoğlu , Ayça Vitrinel Y1 - 2005 PY - 2005 N1 - DO - T2 - Zeynep Kamil Tıp Bülteni JF - Journal JO - JOR SP - 97 EP - 98 VL - 36 IS - 2 SN - 1300-7971-2148-4864 M3 - UR - Y2 - 2021 ER -
EndNote %0 Zeynep Kamil Tıp Bülteni Beta-ketothiolaz eksikliği: Olgu sunumu %A Öznur Kılıç , Serdar Cömert , Gülay Çiler Erdağ , Yasemin Akın , Semiramis Sadıkoğlu , Ayça Vitrinel %T Beta-ketothiolaz eksikliği: Olgu sunumu %D 2005 %J Zeynep Kamil Tıp Bülteni %P 1300-7971-2148-4864 %V 36 %N 2 %R %U
ISNAD Kılıç, Öznur , Cömert, Serdar , Erdağ, Gülay Çiler , Akın, Yasemin , Sadıkoğlu, Semiramis , Vitrinel, Ayça . "Beta-ketothiolaz eksikliği: Olgu sunumu". Zeynep Kamil Tıp Bülteni 36 / 2 (Mart 2005): 97-98 .
AMA Kılıç Ö. , Cömert S. , Erdağ G. Ç. , Akın Y. , Sadıkoğlu S. , Vitrinel A. Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2005; 36(2): 97-98.
Vancouver Kılıç Ö. , Cömert S. , Erdağ G. Ç. , Akın Y. , Sadıkoğlu S. , Vitrinel A. Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2005; 36(2): 97-98.
IEEE Ö. Kılıç , S. Cömert , G. Ç. Erdağ , Y. Akın , S. Sadıkoğlu ve A. Vitrinel , "Beta-ketothiolaz eksikliği: Olgu sunumu", Zeynep Kamil Tıp Bülteni, c. 36, sayı. 2, ss. 97-98, Mar. 2005, doi:10.16948/zktb.04710