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Beta ketothiolase deficiency

An autosomal recessive inborn error of ISOLEUCINE catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and 2-butanone. Some patients may experience KETOSIS during infections and some may have INTELLECTUAL DISABILITY. Mutations in the ACAT1 gene have been identified. OMIM: 203750
Also Known As:
2-Alpha-Methyl-3-Hydroxybutyricacidemia; 2-Methyl-3-Hydroxybutyric Acidemia; 2-methyl-3-hydroxybutyricacidemia; 3-Alpha-Ketothiolase Deficiency; 3-Alpha-Ktd Deficiency; 3-Alpha-Oxothiolase Deficiency; 3-Methylhydroxybutyric Acidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; Alpha-Methylacetoacetic Aciduria; Alpha-methylacetoaceticaciduria; B-Ketothiolase Deficiency; Beta-Ketothiolase Deficiency; Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated; Mitochondrial Acetoacetyl-CoA Thiolase deficiency; T2 Deficiency
Networked: 52 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Fukao, Toshiyuki: 8 articles (03/2019 - 01/2010)
2. Aoyama, Yuka: 4 articles (02/2019 - 09/2013)
3. Hori, Tomohiro: 3 articles (01/2015 - 09/2013)
4. Abdelkreem, Elsayed: 2 articles (03/2019 - 02/2019)
5. Ago, Yasuhiko: 2 articles (03/2019 - 02/2019)
6. Matsumoto, Hideki: 2 articles (03/2019 - 02/2019)
7. Sasai, Hideo: 2 articles (03/2019 - 02/2019)
8. Yamaguchi, Seiji: 2 articles (03/2019 - 01/2015)
9. Sass, Jörn Oliver: 2 articles (01/2017 - 07/2014)
10. Ombrone, Daniela: 2 articles (06/2015 - 10/2011)

Related Diseases

1. Ketosis
2. Propionic Acidemia
3. isovaleric Acidemia
12/01/1979 - "3the latter two compounds are readily detoxified by the formation of N-acylglycine conjugates in liver, which may prevent large accumulations and could explain why hyperammonemia is not characteristic of patients with beta-ketothiolase deficiency or isovaleric acidemia in whom these compounds would be expected to be elevated."
04/01/2018 - "The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD). "
06/01/2021 - "One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). "
07/18/1983 - "Leucine and Isoleucine metabolism in cultured skin fibroblasts from patients with leucinosis, beta-Ketothiolase deficiency, propionic, methylmalonic and isovaleric acidemia, was compared with that in normal fibroblasts. "
09/01/2000 - "The protocol included clinical evaluation, compulsory tests (performed in all patients) and optional tests (performed selectively according to the results from the first tests or through specific clinical hypothesis).RESULTS: Six cases of IEM were identified: galactosemia, non-ketotic hyperglycinaemia, propionic acidemia, isovaleric acidemia, 3-hydroxy-3-methylglutaric acidemia and deficiency of 3-ketothiolase deficiency.CONCLUSIONS: The frequency of organic acidurias in this group was 4/46 (8.7%), which justifies the inclusion of organic acids analysis among the first line exams in acutely and severely ill children with undefined etiology. "
4. Acidosis
5. Medium chain acyl CoA dehydrogenase deficiency
04/01/2018 - "The analysis of urine acylglycines is useful in the diagnosis of inborn errors of metabolism (IEM) including medium chain acyl-CoA dehydrogenase deficiency (MCADD), isovaleric acidemia, and beta-ketothiolase deficiency (BKTD). "
03/10/2000 - "Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting."
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)."
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. "
06/01/2015 - "Five infants were diagnosed with medium-chain acyl CoA dehydrogenase deficiency, 1 with methylmalonic acidemia with homocystinuria type CblC, 2 with isolated methylmalonic acidemia, 1 with propionic acidemia, 1 with isovaleric academia, 1 with isobutyryl-CoA dehydrogenase deficiency, 1 with beta ketothiolase deficiency, 1 with short branched chain amino acid deficiency, 1 with 3-methlycrotonyl-CoA carboxylase deficiency, 1 with formimino-transferase cyclodeaminase deficiency, and 1 with cystathionine-beta-synthase deficiency. "

Related Drugs and Biologics

1. Ketones
2. Isoleucine (L-Isoleucine)
3. Acetyl-CoA C-Acyltransferase (beta Ketothiolase)
4. Coenzyme A (CoA)
5. Acids
6. Transferases
7. Branched-Chain Amino Acids
8. Acetyl-CoA C-Acetyltransferase (Acetyl Coenzyme A Acetyltransferase)
9. Beta ketothiolase deficiency
10. 2-methyl-3-hydroxybutyric acid