A rare cause of coma in pediatric patients: beta ketothiolase 2 methylacetoacetyl Co A thiolase deficiency Case Report
Abstract
Beta ketothiolase deficiency is a rare inborn error of L isoleucine catabolism and ketone body metabolism We present a 13 month old girl with beta ketothiolase deficiency who was admitted with rapidly progressive coma Severe ketoacidosis and mild hyperammonemia was documented This rare case was treated successfully during the acute episode Turk Arch Ped 2007; 42: 77 9 Key words: Beta ketothiolase deficiency ketoacidosis coma
Keywords
References
- Fukao T, Yamaguschi S, Orii T, Hashimoto T. Moleculer basis of β-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase ge- ne. Hum Mutat 1995: 5: 113-20.
- Sovik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase de- ficiency: an inborn error of isoleucine and ketone body meta- bolism. J Inher Metab Dis 1993: 16: 46-54. 3. Monastiri K, Amri F, Limam K, Kaabachi N, Guediche M N. β- Ketothiolase (2- ethylacetoacetyl-CoA thiolase) deficiency: a fre- quent disease in Tunisia? J Inher Metab Dis 1999: 22: 932-3.
- Sweetman L, Willams JC. Branched chain organic acidurias. In: Scriver CR, Beaudet A, Sly WS, Vale DV (eds). The Metabo- lic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 1387-422.
- Gibson K M, Feigenbaum S J. Phenotypically mild presentati- on in a patient with 2-methylacetoacetyl-coenzyme A (β-keto) thiolase deficiency. J Inher Metab Dis 1997: 20: 1-2.
- Daum RS, Lamm P, Mamer OA, Scriver CR. A “new” disorder of isoleucine catabolism. Lancet 1971: 2:1289-90.
- Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm P, Goldman H. An inherited disorder of isoleucine catabolism causing ac- cumulation of a-methylacetoacetate and a-methyl- b-hydroxy- butyrate, and intermittent metabolic acidosis. Pediatr Res 1973:7:149–60.
- Rezvani I, Rosenblatt DS. Valine, leucine, isoleocine and rela- ted organic acidemias. In: Behrman R E, Kliegman R M, Jen- son H B (eds). Nelson Textbook of Pediatrics. 17th ed. Phila- delphia: Saunders, 2004: 409-33.
- Renom G, Fontaine M, Rolland M O, Duprey P, Degand M, Dobbelaere D. A new case of 2-methylacetoacetyl-Co A thi- olase deficiency? J Inheit Metab Dis 2000: 23: 751-3.
- Fukao T, Scriver CR, Kando N, T2 Collaborative Working Gro- up. The Clinical phenotype and outcome of mitochondrial ace- toacetyl-co A thiolase deficiency (β-ketothiolase or T2 defici- ency) in 26 enzymatically proved and mutation-defined pati- ents. Mol Genet Metab 2001: 72: 109-14.
- Sewell AC, Herwig J, Wiegratz I, et al. Mitochondrial aceto- acetyl-CoA thiolase (b-ketothiolase) deficiency and preg- nancy. J Inher Metab Dis 1998: 21: 441-2.
- İnan YÜ, Şaylı TY, Uysal G, Coşkun T. Beta-ketotiyolaz eksik- liği bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2005: 48: 316-9. Ünal ve ark.
- Beta-ketotiyolaz eksikliği
Çocuklarda komanın nadir bir nedeni: beta ketotiyolaz 2 metilasetoasetil koenzim A tiyolaz eksikliği Olgu Sunumu
Abstract
Beta ketotiyolaz L izolösin katabolizması ve keton cisimlerinin metabolizmasında yer alan bir enzimdir 13 aylık kız hasta huzursuzluk hızlı nefes alma şikayetlerinden 12 saat sonra hızla gelişen derin koma nedeniyle başvurdu Ağır ketoasidoz ve hafif hiperamonyemi tespit edilen hastaya beta ketotiyolaz eksikliği tanısı konuldu Akut atak tedavisi yapılan olgu nadir görülmesi nedeniyle sunulmuştur Türk Ped Arş 2007; 42: 77 9 Anahtar kelimeler: Beta ketotiyolaz eksikliği ketoasidoz koma
Keywords
References
- Fukao T, Yamaguschi S, Orii T, Hashimoto T. Moleculer basis of β-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase ge- ne. Hum Mutat 1995: 5: 113-20.
- Sovik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase de- ficiency: an inborn error of isoleucine and ketone body meta- bolism. J Inher Metab Dis 1993: 16: 46-54. 3. Monastiri K, Amri F, Limam K, Kaabachi N, Guediche M N. β- Ketothiolase (2- ethylacetoacetyl-CoA thiolase) deficiency: a fre- quent disease in Tunisia? J Inher Metab Dis 1999: 22: 932-3.
- Sweetman L, Willams JC. Branched chain organic acidurias. In: Scriver CR, Beaudet A, Sly WS, Vale DV (eds). The Metabo- lic and molecular bases of inherited disease. 7th ed. New York: McGraw-Hill, 1995: 1387-422.
- Gibson K M, Feigenbaum S J. Phenotypically mild presentati- on in a patient with 2-methylacetoacetyl-coenzyme A (β-keto) thiolase deficiency. J Inher Metab Dis 1997: 20: 1-2.
- Daum RS, Lamm P, Mamer OA, Scriver CR. A “new” disorder of isoleucine catabolism. Lancet 1971: 2:1289-90.
- Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm P, Goldman H. An inherited disorder of isoleucine catabolism causing ac- cumulation of a-methylacetoacetate and a-methyl- b-hydroxy- butyrate, and intermittent metabolic acidosis. Pediatr Res 1973:7:149–60.
- Rezvani I, Rosenblatt DS. Valine, leucine, isoleocine and rela- ted organic acidemias. In: Behrman R E, Kliegman R M, Jen- son H B (eds). Nelson Textbook of Pediatrics. 17th ed. Phila- delphia: Saunders, 2004: 409-33.
- Renom G, Fontaine M, Rolland M O, Duprey P, Degand M, Dobbelaere D. A new case of 2-methylacetoacetyl-Co A thi- olase deficiency? J Inheit Metab Dis 2000: 23: 751-3.
- Fukao T, Scriver CR, Kando N, T2 Collaborative Working Gro- up. The Clinical phenotype and outcome of mitochondrial ace- toacetyl-co A thiolase deficiency (β-ketothiolase or T2 defici- ency) in 26 enzymatically proved and mutation-defined pati- ents. Mol Genet Metab 2001: 72: 109-14.
- Sewell AC, Herwig J, Wiegratz I, et al. Mitochondrial aceto- acetyl-CoA thiolase (b-ketothiolase) deficiency and preg- nancy. J Inher Metab Dis 1998: 21: 441-2.
- İnan YÜ, Şaylı TY, Uysal G, Coşkun T. Beta-ketotiyolaz eksik- liği bir vaka takdimi. Çocuk Sağlığı ve Hastalıkları Dergisi 2005: 48: 316-9. Ünal ve ark.
- Beta-ketotiyolaz eksikliği
There are 12 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Authors | |
| Publication Date | June 1, 2007 |
| IZ | https://izlik.org/JA99FC38BA |
| Published in Issue | Year 2007 Volume: 42 Issue: 2 |