HOMEPRODUCTSSERVICESCOMPANYCONTACTFAQResearchDictionaryPharmaMobileSign Up FREE or Login

Beta ketothiolase deficiency

Also Known As:
2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-methylacetoaceticaciduria; Mitochondrial Acetoacetyl-CoA Thiolase deficiency
Networked: 28 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Fukao, Toshiyuki: 3 articles (06/2014 - 07/2013)
2. Salvatore, Francesco: 2 articles (06/2015 - 10/2011)
3. Ombrone, Daniela: 2 articles (06/2015 - 10/2011)
4. Ruoppolo, Margherita: 2 articles (06/2015 - 10/2011)
5. Aoyama, Yuka: 2 articles (06/2014 - 09/2013)
6. Di Stefano, Cristina: 1 article (06/2015)
7. Stoduto, Teodoro: 1 article (06/2015)
8. Pellecchia, Silvana: 1 article (06/2015)
9. Caterino, Marianna: 1 article (06/2015)
10. Romanelli, Roberta: 1 article (06/2015)

Related Diseases

1. Propionic Acidemia
2. Multiple Acyl Coenzyme A Dehydrogenase Deficiency
04/01/1984 - "Chromatograms for patients with methylmalonic aciduria, propionic aciduria, isovaleric aciduria, beta-ketothiolase deficiency, lactic aciduria, and glutaric aciduria type II are compared with those for a normal infant."
04/01/1983 - "The urinary excretion of ethylmalonic acid was studied in various patients, including children with glutaric aciduria type II and with beta-ketothiolase deficiency. "
04/01/2006 - "The first three categories were recommended for screening under constant scientific evaluation, while glutaric aciduria II, beta-ketothiolase deficiency, short-chain acylCoA dehydrogenase deficiency, and homocystinuria were not included in the screening program. "
10/01/2011 - "The diagnostic usefulness of the method was demonstrated in three patients with propionic acidemia (PA), one patient with isovaleric acidemia (IVA), two patients with beta ketothiolase deficiency (BKTD), one patient with short branched chain amino acid deficiency (SBCAD), four patients with medium chain acyl-coenzyme A dehydrogenase deficiency (MCADD), one patient with isobutyryl-coenzyme A dehydrogenase deficiency (IBDHD), and one patient with multiple acyl-coenzyme A dehydrogenase deficiency (MADD)."
08/01/2007 - "In all, 212 cases were diagnosed (6.6%) including 92 (43.4%) with amino acids disorders (48 with phenylketonuria, 12 with ornithine carbamoyltransferase deficiency, 7 with tyrosinaemia type I, 9 with maple syrup urine disease, 5 with citrullinaemia type I, 8 with citrullinaemia type II, 2 with homocystinuria, and 1 with argininaemia); 107 (50.5%) with organic acid disorders (including 58 with methylmalonic acidaemia, 13 with propionic acidaemia, 6 with isovaleric acidaemia, 7 with glutaric acidaemia type I, 6 with 3-methylcrotonyl-CoA carboxylase deficiency, 2 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 10 with multiple carboxylase deficiency, and 5 with beta-ketothiolase deficiency); and 13 (6.1%) with fatty acid oxidation disorders (including 1 with carnitine palmitoyltransferase deficiency type I, 1 with carnitine palmitoyltransferase deficiency type II, 1 with short-chain acyl-CoA dehydrogenase deficiency, 5 with medium-chain acyl-CoA dehydrogenase deficiency, 3 with very long-chain acyl-CoA dehydrogenase deficiency, and 2 with multiple acyl-CoA dehydrogenase deficiency). "
3. Ketosis
4. Vomiting
5. Phenylketonurias (Phenylketonuria)
04/01/2011 - "We present evidence in the UAE of 7 new mutations and 19 mutations that have previously been reported in other populations, all causing a number of common IEM disorders, including phenylketonuria, maple syrup urine disease, glycogen storage diseases, beta-ketothiolase deficiency, and Zellweger syndrome among many others. "
12/01/1999 - "We have analysed samples from 137 120 consecutive newborns received by the program, requested repeat samples from 122 babies, and found abnormal levels in 17 babies with phenylketonuria, 1 tetrahydrobiopterin deficiency, 3 hyperphenylalaninaemia, 1 maple syrup urine disease, 1 tyrosinaemia type II, 1 congenital lactic acidosis, 2 medium-chain acyl CoA dehydrogenase deficiency, 1 short-chain acyl CoA dehydrogenase deficiency, 1 beta-ketothiolase deficiency, 2 vitamin B12 deficient babies of vegan mothers and 1 glutaric aciduria type I. Using population data plus that obtained from retrospective samples with proven disorders we have established cut-off levels for each analyte tested. "
08/01/2007 - "In all, 212 cases were diagnosed (6.6%) including 92 (43.4%) with amino acids disorders (48 with phenylketonuria, 12 with ornithine carbamoyltransferase deficiency, 7 with tyrosinaemia type I, 9 with maple syrup urine disease, 5 with citrullinaemia type I, 8 with citrullinaemia type II, 2 with homocystinuria, and 1 with argininaemia); 107 (50.5%) with organic acid disorders (including 58 with methylmalonic acidaemia, 13 with propionic acidaemia, 6 with isovaleric acidaemia, 7 with glutaric acidaemia type I, 6 with 3-methylcrotonyl-CoA carboxylase deficiency, 2 with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, 10 with multiple carboxylase deficiency, and 5 with beta-ketothiolase deficiency); and 13 (6.1%) with fatty acid oxidation disorders (including 1 with carnitine palmitoyltransferase deficiency type I, 1 with carnitine palmitoyltransferase deficiency type II, 1 with short-chain acyl-CoA dehydrogenase deficiency, 5 with medium-chain acyl-CoA dehydrogenase deficiency, 3 with very long-chain acyl-CoA dehydrogenase deficiency, and 2 with multiple acyl-CoA dehydrogenase deficiency). "

Related Drugs and Biologics

1. Medium chain acyl CoA dehydrogenase deficiency
2. Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)
3. Oxidoreductases
4. isovaleric Acidemia
5. Short chain Acyl CoA dehydrogenase deficiency
6. Beta ketothiolase deficiency
7. isobutyryl-coenzyme A (isobutyryl-CoA)
8. Glutamate Formimidoyltransferase (Glutamate Formiminotransferase)
9. Vitamin B 12 (Cyanocobalamin)
10. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase)