Abstract
Abstract
Beta-ketothiolase deficiency is an autosomal recessive disorder, a rare disorder of isoleucine and ketone metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. Due to the rarity and often asymptomatic in the neonatal period it is not considered in the differential diagnosis by clinicians. Two cases (7-month-old male, 10-month-old girl) were accepted with lower respiratory tract infection findings. Sodium bicarbonate treatment was performed because metabolic disease was considered due to the presence of severe metabolic acidosis. Because of the inadequately to respond the treatmentfor the girl case, peritoneal dialysis was also performed, but severe neurological sequelae remained. Both cases were diagnosed with beta-ketothiolase deficiency by urine organic acid analysis. Patients were started with L-carnitine, and a protein-limited low-fatdiet was arranged. In lower respiratory tract infections accompanied by severe metabolic acidosis, beta-ketothiolase deficiency should also be considered.
References
- Kaynaklar 1.Arica V, Arica SG, Dag H, Onur H, Obut O, Gülbayzar S. Beta-ke-tothiolase deficiency brought with lethargy: case report. Hum ExpToxicol. 2011;30:1724-1727. 2.Fukao T, Scriver CR, Kondo N, and T2 Collaborative Working Gro-up. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (Beta-ketothiolase or T2 deficiency) in 26enzymatically proved and mutation-defined patients. Mol Gen Me-tabol 2001; 72: 109-114. 3.Mitchell GA and Fukao T. Inborn errors of ketone body catabolism.In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Metabolic and Mo-lecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill,2002, p.2327-2356. 4.Fukao T, Wakazono A, Song XQ, et al. Prenatal diagnosis in a fa-mily with mitochondrial acetoacetyl-coenzyme A thiolase deficiencywith the use of the polymerase chain reaction followed by the hete-roduplex detection method. Prenat Diagn 1995; 15: 363-367. 5.Sovik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency:an inborn error of isoleucine and ketone body metabolism. J Inhe-rit Metab Dis 1993; 16: 46-54. 6.Yasin ŞAHİN, Derya AYDIN. Beta-ketotiyolaz Eksikliği: Vaka Su-numu. Fırat Tıp Dergisi 2004; 9: 141-142. 7.Keating JP, Feigin RD, Tenenbaum SM, Hillman RE. Hyperglyci-nemia with ketosis due to a defect in isoleucine metabolism: A pre-liminary report. Pediatrics 1972; 50: 890-895. 8.Hillman RE, Keating JP. Beta-ketothiolase deficiency as a cause ofthe "ketotic hyperglycinemia syndrome." Pediatrics 1974; 53: 221- 225. 9.Henry CG, Strauss AW, Keating JP, Hillman RE. Congestive car-diomyopathy associated with beta-ketothiolase deficiency. J Pediatr1981; 99: 754-757. 10.Leonard JV, Middleton B, Seakins JW. Acetoacetyl-CoA thiolase de-ficiency presenting as ketotic hypoglycemia. Pediatr Res 1987; 21:211-213. 11.Schutgens RB, Middleton B, vd Blij JF, Oorthuys JW, Veder HA, Vuls-ma T, et al. Beta-ketothiolase deficiency in a family confirmed by invitro enzymatic assays in fibroblasts. Eur J Pediatr. 1982;139: 39-42.
Abstract
Öz
Beta-ketotiyolaz (2-metilasetoasetil-CoA tiyolaz,T2) eksikliği izolösin ve keton metabolizmasının seyrek görülen, otozomal resesif geçiş gösteren bir bozukluğudur. Hastalık ketoasidoz, kusma, dehidratasyon ve komaya kadar gidebilen klinik bulgular ile karakterizedir ve ataklarla seyretmektedir. Nadir görülmesi ve yenidoğan döneminde bulgu vermemesi nedeni ile çoğunlukla klinisyenler tarafından ayırıcı tanıda düşünülmemektedir. Alt solunum yolu enfeksiyonu bulguları ile başvuran 7 aylık erkek ve 10 aylık kıziki vakada ağır metabolik asidoz bulunması nedeni ile metabolik hastalık düşünülereksodyum bikarbonat tedavisi uygulanmıştır. Kız vakada tedaviye cevap alınamayarak periton diyalizi de uygulanmış ancak ağır nörolojik sekelli kalmıştır. Her iki vakada da idrar organik asit analizi ile beta-ketotiyolaz eksikliği tanısı konularak diyet önerileri ile birlikte karnitin tedavisi başlanmıştır. Ağır metabolik asidozun eşlik ettiği alt solunumyolu enfeksiyonlarında beta-ketotiyolaz eksikliğinin de düşünülmesi gereklidir.
References
- Kaynaklar 1.Arica V, Arica SG, Dag H, Onur H, Obut O, Gülbayzar S. Beta-ke-tothiolase deficiency brought with lethargy: case report. Hum ExpToxicol. 2011;30:1724-1727. 2.Fukao T, Scriver CR, Kondo N, and T2 Collaborative Working Gro-up. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (Beta-ketothiolase or T2 deficiency) in 26enzymatically proved and mutation-defined patients. Mol Gen Me-tabol 2001; 72: 109-114. 3.Mitchell GA and Fukao T. Inborn errors of ketone body catabolism.In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Metabolic and Mo-lecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill,2002, p.2327-2356. 4.Fukao T, Wakazono A, Song XQ, et al. Prenatal diagnosis in a fa-mily with mitochondrial acetoacetyl-coenzyme A thiolase deficiencywith the use of the polymerase chain reaction followed by the hete-roduplex detection method. Prenat Diagn 1995; 15: 363-367. 5.Sovik O. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency:an inborn error of isoleucine and ketone body metabolism. J Inhe-rit Metab Dis 1993; 16: 46-54. 6.Yasin ŞAHİN, Derya AYDIN. Beta-ketotiyolaz Eksikliği: Vaka Su-numu. Fırat Tıp Dergisi 2004; 9: 141-142. 7.Keating JP, Feigin RD, Tenenbaum SM, Hillman RE. Hyperglyci-nemia with ketosis due to a defect in isoleucine metabolism: A pre-liminary report. Pediatrics 1972; 50: 890-895. 8.Hillman RE, Keating JP. Beta-ketothiolase deficiency as a cause ofthe "ketotic hyperglycinemia syndrome." Pediatrics 1974; 53: 221- 225. 9.Henry CG, Strauss AW, Keating JP, Hillman RE. Congestive car-diomyopathy associated with beta-ketothiolase deficiency. J Pediatr1981; 99: 754-757. 10.Leonard JV, Middleton B, Seakins JW. Acetoacetyl-CoA thiolase de-ficiency presenting as ketotic hypoglycemia. Pediatr Res 1987; 21:211-213. 11.Schutgens RB, Middleton B, vd Blij JF, Oorthuys JW, Veder HA, Vuls-ma T, et al. Beta-ketothiolase deficiency in a family confirmed by invitro enzymatic assays in fibroblasts. Eur J Pediatr. 1982;139: 39-42.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Makaleler 1 |
| Authors | |
| Publication Date | March 3, 2017 |
| Published in Issue | Year 2017 Volume: 5 Issue: 3 |
