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Beta-ketothiolaz eksikliği: Olgu sunumu

Year 2005, Volume: 36 Issue: 2, 97 - 98, 01.03.2005

Abstract

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.

References

  • 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

Year 2005, Volume: 36 Issue: 2, 97 - 98, 01.03.2005

Abstract

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.

References

  • 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
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Details

Primary Language Turkish
Journal Section Articles
Authors

Öznur Kılıç This is me

Serdar Cömert This is me

Gülay Çiler Erdağ This is me

Yasemin Akın This is me

Semiramis Sadıkoğlu This is me

Ayça Vitrinel This is me

Publication Date March 1, 2005
Published in Issue Year 2005 Volume: 36 Issue: 2

Cite

APA Kılıç, Ö., Cömert, S., Erdağ, G. Ç., Akın, Y., et al. (2005). Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni, 36(2), 97-98. https://doi.org/10.16948/zktb.04710
AMA Kılıç Ö, Cömert S, Erdağ GÇ, Akın Y, Sadıkoğlu S, Vitrinel A. Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni. March 2005;36(2):97-98. doi:10.16948/zktb.04710
Chicago Kılıç, Öznur, Serdar Cömert, Gülay Çiler Erdağ, Yasemin Akın, Semiramis Sadıkoğlu, and Ayça Vitrinel. “Beta-Ketothiolaz eksikliği: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 36, no. 2 (March 2005): 97-98. https://doi.org/10.16948/zktb.04710.
EndNote Kılıç Ö, Cömert S, Erdağ GÇ, Akın Y, Sadıkoğlu S, Vitrinel A (March 1, 2005) Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni 36 2 97–98.
IEEE Ö. Kılıç, S. Cömert, G. Ç. Erdağ, Y. Akın, S. Sadıkoğlu, and A. Vitrinel, “Beta-ketothiolaz eksikliği: Olgu sunumu”, Zeynep Kamil Tıp Bülteni, vol. 36, no. 2, pp. 97–98, 2005, doi: 10.16948/zktb.04710.
ISNAD Kılıç, Öznur et al. “Beta-Ketothiolaz eksikliği: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni 36/2 (March 2005), 97-98. https://doi.org/10.16948/zktb.04710.
JAMA Kılıç Ö, Cömert S, Erdağ GÇ, Akın Y, Sadıkoğlu S, Vitrinel A. Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2005;36:97–98.
MLA Kılıç, Öznur et al. “Beta-Ketothiolaz eksikliği: Olgu Sunumu”. Zeynep Kamil Tıp Bülteni, vol. 36, no. 2, 2005, pp. 97-98, doi:10.16948/zktb.04710.
Vancouver Kılıç Ö, Cömert S, Erdağ GÇ, Akın Y, Sadıkoğlu S, Vitrinel A. Beta-ketothiolaz eksikliği: Olgu sunumu. Zeynep Kamil Tıp Bülteni. 2005;36(2):97-8.