β- Ketothiolase (2- ethylacetoacetyl-CoA thiolase) deficiency: a fre- quent disease in Tunisia? J Inher Metab Dis 1999: 22: 932-3.Monastiri et al., " beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: A frequent disease in Tunisia? " J. Inher. Metab. Dis. 22:932-...
Beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase, MAT or T2 deficiency) is a rare autosomal recessive disorder of isoleucine and ketone body metabolism due to acetyl-CoA acetyltransferase-1 (ACAT1) gene mutations. The disease is characterized by recurrent episodes of ketoasidosis ...
Challenges in the diagnosis of methylacetoacetyl-coenzymeAthiolase (beta-ketothiolase) deficiencyJ.O., SassS., ReichlL., BahrC., BritschgiK., BilicM., CukV., SarnavkaL., PalezacI., BaricK., Fumic
This is a very atypical clinical phenotype in T2 deficiency. We finally realized that she also has severe carnitine deficiency which might suppress beta‐oxidation resulting in nonketotic hypoglycemia. After carnitine supplementation, she actually developed episodes with ketonuria. Her carnitine deficiency...
Fukao T. Beta-ketothiolase deficiency. Orphanet encyclopedia; 2004. Disponible a : https://www.orpha.net/data/patho/GB/uk-T2.pdf.Fukao T. Beta-ketothiolase deficiency. Orphanet encyclopedia, September 2004, Updated Febr...
Beta-ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identifi- cation of two patients in Israel. J Inherit Metab Dis. 1996;19(5): 698-699.Gibson KM, Elpeleg ON, Bennett MJ. Beta-ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: Identification of two ...
Newborn screening (NBS) for T2 deficiency is performed in some countries but some T2-deficient patients have been missed by NBS. Therefore, T2 deficiency should be considered in patients with severe metabolic acidosis, even in regions where NBS for T2 deficiency is performed. Neurological ...
We report this case of a twenty-month-old Indian boy with BKT deficiency. This is to alert pediatricians to this rare metabolic disorder and to consider it in patients presenting with metabolic acidosis. TO the best Of Our knowledge this is the first case to be reported from Kuwait and ...
A 32-year-old nulliparous woman at 40 weeks gestation with beta-ketothiolase deficiency required an emergency caesarean section for fetal bradycardia. A multidisci-plinary team had previously formulated a plan for her management (Table 1). Spinal anaesthesia using hyper-baric bupivacaine 12.5 mg ...
Beta-ketothiolase deficiency (BKTD) is an inborn error of ketone bodies and isoleucine metabolism. Patients with BKTD manifest during late infancy and early childhood with recurrent episodes of ketoacidosis (accumulated acetoacetate and 尾-hydroxybutyrate) that may be refractory to treatment and life-...