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...
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
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...
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 (2-methylacetoacetyl-coenzyme A thiolase) deficiency: Identification of two patients in Israel. J Inherit Metab Dis 1996; 19:698–699.Gibson KM, Elpeleg ON, Bennett MJ. Beta-ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identifi- cation of two patients ...
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 ...
Schutgens RBH, Middleton B, Bliij JF, Oorthuys JWE, Veder HA, Vulsma T, Tegelaers WHH (1982) Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts. Eur J Pediatr 139: 39–42Middleton B, Bartlett K, Romanos A, Vazquez JG, Conde C, Cannon ...
Beta-ketothiolase deficiency is a very rare inherited metabolic disorder with only 70 reported cases in the world literature in the last four decades with only one reported case in pregnancy. It is characterized by a defect of mitochondrial acetyl-CoA thiolase (T2) involving ketone body metabolism...
High serum lactate (due to anerobic metabolism or as a side effect of insulin/glucose therapy) may occur during treatment of beta ketothiolase deficiency (BKTD). In some BKTD patients, serum lactate may increase contributing to the refractory metabolic acidosis. DCA minimized ketone bodies ...