• Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the products of lipid breakdown. (wikipedia.org)
  • The signs and symptoms of beta-ketothiolase deficiency include vomiting, dehydration, trouble breathing, extreme tiredness, and occasionally convulsions. (wikipedia.org)
  • citation needed] Mutations in the ACAT1 gene cause beta-ketothiolase deficiency. (wikipedia.org)
  • citation needed] In beta-ketothiolase deficiency, alpha-methyl-beta-keto-butyrate, alpha-methyl-beta-OH-butyrate and tiglyl glycine (upstream metabolites of the affected enzyme) may accumulate and may be detected on urine organic acid analysis by GC-MS. This may aid in the diagnosis, but for a more definitive diagnosis genetic confirmation needs to be done. (wikipedia.org)
  • The signs and symptoms of beta-ketothiolase deficiency typically appear between the ages of 6 months and 24 months. (medlineplus.gov)
  • Beta-ketothiolase deficiency appears to be very rare. (medlineplus.gov)
  • Fukao T, Yamaguchi S, Orii T, Hashimoto T. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. (medlineplus.gov)
  • 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. (medlineplus.gov)
  • KETONEX®-1 Amino acid-modified infant formula with iron, Nutrition support of infants and toddlers with maple syrup urine disease (MSUD) or beta-ketothiolase deficiency. (medacart.com)
  • Trifunctional enzyme subunit beta, mitochondrial (TP-beta) also known as 3-ketoacyl-CoA thiolase , acetyl-CoA acyltransferase , or beta-ketothiolase is an enzyme that in humans is encoded by the HADHB gene . (wikidoc.org)
  • Acetyl-CoA acetyltransferase (EC 2.3.1.9) @ Beta-ketoadipyl CoA thiolase (EC 2.3.1. (lbl.gov)
  • Thiolase is reported to be structurally related to beta-ketoacyl synthase (pfam00109), and also chalcone synthase. (umbc.edu)
  • The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. (wikidoc.org)
  • Characterization of the genes encoding beta-ketothiolase and acetoacetyl-CoA reductase. (expasy.org)
  • Diuretics, angiotensin-converting enzyme (ACE) inhibitors, and beta-blockers are used. (medscape.com)
  • This gene encodes the beta subunit of the mitochondrial trifunctional protein, a catalyst of mitochondrial beta-oxidation of long chain fatty acids . (wikidoc.org)
  • Acetyl-CoA, generated by the beta-oxidation pathway, enters the mitochondrial TCA cycle, where it is further oxidized to generate NADH and FADH2. (assaygenie.com)
  • Both NADH and FADH2 are produced by both beta-oxidation and the TCA cycle and are used by the mitochondrial electron transport chain to produce ATP . (assaygenie.com)
  • b Identification of putative peroxisomal enzymes and enyzmes of mitochondrial beta-oxidation. (biomedcentral.com)
  • The HADHB protein catalyzes the final step of beta-oxidation, in which 3-ketoacyl CoA is cleaved by the thiol group of another molecule of Coenzyme A . The thiol is inserted between C-2 and C-3, which yields an acetyl CoA molecule and an acyl CoA molecule, which is two carbons shorter. (wikidoc.org)
  • Thiolytic cleavage: Catalyzed by beta-ketothiolase, this step cleaves the terminal acetyl-CoA group and forms a new acyl-CoA which is two carbons shorter than the previous one. (assaygenie.com)
  • These cells alter their metabolism in response to changes in the immune environment, and beta-oxidation of fatty acids is one way they generate the necessary energy and biosynthetic precursors for their function. (assaygenie.com)
  • Beta-blocker therapy in children with chronic heart failure due to DCM has been shown to improve symptoms and left ventricular ejection fraction. (medscape.com)
  • In conclusion, the fatty acid beta-oxidation pathway is a key component of our body's metabolic machinery, enabling efficient energy production and storage. (assaygenie.com)
  • Immune cells, like macrophages, T cells , and B cells , rely on metabolic pathways to fuel their activities, and beta-oxidation is one such key metabolic process. (assaygenie.com)
  • For example, in T cells, beta-oxidation is crucial for differentiation and effector functions, with different T cell subsets (e.g., effector T cells and memory T cells) showing varying dependencies on this metabolic pathway. (assaygenie.com)
  • Beta-oxidation is a multi-step process that involves the breakdown of fatty acids within the body. (assaygenie.com)
  • Beta-oxidation plays a pivotal role in energy production and storage within our bodies. (assaygenie.com)
  • Beta-oxidation plays an integral role not only in energy metabolism but also in immune function. (assaygenie.com)
  • Beta-oxidation primarily takes place within the mitochondria, a specialized component of the cell known as the powerhouse. (assaygenie.com)
  • 7. Intrinsic sterol- and phosphatidylcholine transfer activities of 17 beta-hydroxysteroid dehydrogenase type IV. (nih.gov)
  • 이 엄격한 호기성 산화(aerobic oxidation) 경로는 4가지 단계로 구성됩니다 : Acyl-CoA dehydrogenase에 의한 acyl-CoA dehydrogenation(탈수소화), enoyl-CoA hydratase에 의한 hydration(수화), 3-hydroxyacyl-CoA dehydrogenase에 의한 탈수소화, by beta-ketothiolase에 의한 thiolytic cleavage. (assaygenie.kr)
  • Beta-ketothiolase caused by defects in the acetyl-CoA acetyltransferase 1 (ACAT1) gene. (biomedres.us)
  • Constitutive expression of the beta-ketothiolase gene in transgenic plants. (mpg.de)
  • 사람에서 beta-oxidation 시스템의 중요성은 fatty acid oxidation disorders(FAODs, 지방산 산화 장애)로 분류되는 유전질환 그룹의 존재로 확인 할 수 있습니다. (assaygenie.kr)
  • 2-Methyl,3-Hydroxybutyric acid (HMBA) is involved in isoleucine catabolism and beta-oxidation of fatty acids and ketogenesis. (loinc.org)
  • 14. Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes. (nih.gov)