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.
Anahtar Kelimeler
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
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.
Anahtar Kelimeler
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
Toplam 2 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Mart 2005 |
| Yayımlandığı Sayı | Yıl 2005 Cilt: 36 Sayı: 2 |