Disease on EC 2.3.1.9 - acetyl-CoA C-acetyltransferase
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DISEASE 
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acetyl-coa c-acetyltransferase deficiency
3-Oxothiolase activities and [14C]-2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.
acetyl-coa c-acetyltransferase deficiency
A coupled assay detecting defects in fibroblast isoleucine degradation distal to enoyl-CoA hydratase: application to 3-oxothiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.
acetyl-coa c-acetyltransferase deficiency
Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.
acetyl-coa c-acetyltransferase deficiency
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Beta ketothiolase deficiency brought with lethargy: Case report.
acetyl-coa c-acetyltransferase deficiency
Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.
acetyl-coa c-acetyltransferase deficiency
Delayed-onset dystonia associated with 3-oxothiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
acetyl-coa c-acetyltransferase deficiency
Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
acetyl-coa c-acetyltransferase deficiency
First report of 3-oxothiolase deficiency in iran.
acetyl-coa c-acetyltransferase deficiency
Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.
acetyl-coa c-acetyltransferase deficiency
Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Influence of ketone bodies on oxidative stress parameters in brain of developing rats in vitro.
acetyl-coa c-acetyltransferase deficiency
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
acetyl-coa c-acetyltransferase deficiency
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
acetyl-coa c-acetyltransferase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
acetyl-coa c-acetyltransferase deficiency
Screening for defects of branched-chain amino acid metabolism.
acetyl-coa c-acetyltransferase deficiency
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
acetyl-coa c-acetyltransferase deficiency
The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
acetyl-coa c-acetyltransferase deficiency
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
acetyl-coa c-acetyltransferase deficiency
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
[Acetoacetyl-CoA thiolase deficiency, mitochondrial]
acetyl-coa c-acetyltransferase deficiency
[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency]
acetyl-coa c-acetyltransferase deficiency
[Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina]
acetyl-coa c-acetyltransferase deficiency
[Mitochondrial acetoacetyl-CoA Thiolase deficiency: Neonatal onset.]
acetyl-coa c-acetyltransferase deficiency
[Mitochondrial acetoacetyl-CoA thiolase deficiency]
acetyl-coa c-acyltransferase deficiency
3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
acetyl-coa c-acyltransferase deficiency
Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins.
acetyl-coa c-acyltransferase deficiency
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
acetyl-coa c-acyltransferase deficiency
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.
acetyl-coa c-acyltransferase deficiency
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
acetyl-coa c-acyltransferase deficiency
Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India.
acetyl-coa c-acyltransferase deficiency
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
acetyl-coa c-acyltransferase deficiency
Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.
acetyl-coa c-acyltransferase deficiency
Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping.
acetyl-coa c-acyltransferase deficiency
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
acetyl-coa c-acyltransferase deficiency
Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene.
acetyl-coa c-acyltransferase deficiency
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.
acetyl-coa c-acyltransferase deficiency
[Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina]
Acidosis
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
Alzheimer Disease
Coenzyme A-acetylating enzymes in Alzheimer's disease: possible cholinergic 'compartment' of pyruvate dehydrogenase.
Carcinoma
Diagnostic biomarkers for renal cell carcinoma: selection using novel bioinformatics systems for microarray data analysis.
Carcinoma, Hepatocellular
The ménage à trois of autophagy, lipid droplets and liver disease.
Carcinoma, Renal Cell
Diagnostic biomarkers for renal cell carcinoma: selection using novel bioinformatics systems for microarray data analysis.
Cholangiocarcinoma
Avasimibe Dampens Cholangiocarcinoma Progression by Inhibiting FoxM1-AKR1C1 Signaling.
Colitis
Impairment of mitochondrial acetoacetyl CoA thiolase activity in the colonic mucosa of patients with ulcerative colitis.
Colitis, Ulcerative
Impairment of mitochondrial acetoacetyl CoA thiolase activity in the colonic mucosa of patients with ulcerative colitis.
Coma
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.
Coma
[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency]
Diabetes Mellitus, Type 2
Downregulation of the acetyl-CoA metabolic network in adipose tissue of obese diabetic individuals and recovery after weight loss.
Genetic Diseases, Inborn
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.
Glioma
Differential utilization of ketone bodies by neurons and glioma cell lines: a rationale for ketogenic diet as experimental glioma therapy.
hydroxymethylglutaryl-coa lyase deficiency
Screening for defects of branched-chain amino acid metabolism.
Infections
Impaired cholesterol biosynthesis in a neuronal cell line persistently infected with measles virus.
Infertility
Reverse Genetic Characterization of two Paralogous Acetoacetyl-CoA Thiolase genes in Arabidopsis Reveals Their Importance in Plant Growth and Development.
Intellectual Disability
Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation.
Iron Deficiencies
Perturbation of mitochondrial composition in muscle by iron deficiency. Implications regarding regulation of mitochondrial assembly.
isovaleryl-coa dehydrogenase deficiency
Screening for defects of branched-chain amino acid metabolism.
Ketosis
Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.
Ketosis
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
Ketosis
Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Ketosis
Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.
Ketosis
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Ketosis
The recent insights into the function of ACAT1: A possible anti-cancer therapeutic target.
methylcrotonoyl-coa carboxylase deficiency
Screening for defects of branched-chain amino acid metabolism.
methylglutaconyl-coa hydratase deficiency
Screening for defects of branched-chain amino acid metabolism.
Mouth Neoplasms
Identification of estrogen-regulated genes in the mouse uterus using a delayed-implantation model.
Nasopharyngeal Carcinoma
Epigenetic Inactivation of Acetyl-CoA Acetyltransferase 1 Promotes the Proliferation and Metastasis in Nasopharyngeal Carcinoma by Blocking Ketogenesis.
Neoplasm Metastasis
Epigenetic Inactivation of Acetyl-CoA Acetyltransferase 1 Promotes the Proliferation and Metastasis in Nasopharyngeal Carcinoma by Blocking Ketogenesis.
Neoplasms
Avasimibe Dampens Cholangiocarcinoma Progression by Inhibiting FoxM1-AKR1C1 Signaling.
Neoplasms
Loss of acetoacetate coenzyme A transferase activity in tumours of peripheral tissues.
Neurologic Manifestations
A patient with severe neurologic symptoms and acetoacetyl-CoA thiolase deficiency.
Non-alcoholic Fatty Liver Disease
The ménage à trois of autophagy, lipid droplets and liver disease.
Obesity
Differential representation of liver proteins in obese human subjects suggests novel biomarkers and promising targets for drug development in obesity.
Prostatic Neoplasms
Sirtuin 5 regulates the proliferation, invasion and migration of prostate cancer cells through acetyl-CoA acetyltransferase 1.
Zellweger Syndrome
Peroxisomal disorders in children: immunohistochemistry and neuropathology.
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