Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. [books.google.com]

The present study concerns a patient with partial cytosolic acetoacetyl-CoA thiolase deficiency. The patient developed apparently normal during the first 2 months of life, but deteriorated rapidly during the following months. [nature.com]

The association of recurrent attacks of severe ketoacidosis with blood glucose levels generally high or normal, low lactacidemia and low ammonemia is the most common presentation of these disorders. [karger.com]

Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. [link.springer.com]

[…] with methods of the present teachings. [google.com]

• Vietnamese

  A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. Mol Genet Metab. 2010 May;100(1):37-41. Epub 2010 Jan 21. PMID: 20156697 doi: 10.1016/j.ymgme.2010.01.007 Modis Y, Wierenga RK. [proteopedia.org]

  A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency Mol Genet Metab 100(1):37-41,2010 70. [ketone.jp]

• Weakness

  The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry. Biochem J. 2018 Dec 20. pii: BCJ20180788. doi: 10.1042/BCJ20180788. [proteopedia.org]

• Heart Disease

  Lipid Res. (2005) [ Pubmed ] ACAT2 is a target for treatment of coronary heart disease associated with hypercholesterolemia. Rudel, L.L., Lee, R.G., Parini, P. Arterioscler. Thromb. Vasc. [wikigenes.org]

• Suggestibility

  It has been suggested that the mitochondrial acetoacetyl-CoA thiolase is involved in ketone body generation while the cytosolic enzyme participates in ketone body utilization. [nature.com]

  These results suggest that Thiolase I, present in the cytosol, has an indispensable role in the meval- onate pathway. [myslide.es]

  The patients have various ethnic backgrounds: northern European, 1-4 African-American, 5 Japanese, 6 and African. 7 This communication is to report a tenth patient from another far eastern country, Pakistan, and to suggest that this disease may not be [pediatrics.aappublications.org]

  Results: The activity of mitochondrial acetoacetyl CoA thiolase was decreased by 80% in ulcerative colitis (3.4 (0.58) μmol/min/g wet weight, n   30) compared with control (16.9 (3.5), n   18) and with Crohn’s colitis (17.6 (3.1), n   12) (p V max, suggesting [gut.bmj.com]

• Confusion

  Some enzymes called thiolase or thiolase-I have referred to this activity or to the activity of ACETYL-COA C-ACYLTRANSFERASE. do not confuse with ACETYL-COA C-ACYLTRANSFERASE See Also Acetyl-CoA C-Acyltransferase Other names Acetyl- CoA Acetyltransferase [reference.md]

• Candida

  @article{08c0a5596d4744088b4e4049074b3566, title "Genetic evaluation of physiological functions of thiolase isozymes in the n-alkane-assimilating yeast Candida tropicalis", abstract "The n-alkane-assimilating diploid yeast Candida tropicalis possesses [okayama.pure.elsevier.com]

  […] and cytosolic acetoacetyl-CoA thiolase isozymes in n -alkane-assimilating diploid yeast, Candida tropicalis Genetic Evaluation of Peroxisomal and Cytosolic Acetoacetyl-CoA Thiolase Isozymes in n-Alkane-Assimilating Diploid Yeast, Candida tropicalis Mitsuyoshi [documentslide.com]

  Index Entries: Candida tropicalis; peroxisome; cytosol; acetoacetyl-CoA thiolase; 3-ketoacyl-CoA thiolase; mevalonate. [myslide.es]

  "Genetic evaluation of physiological functions of thiolase isoenzymes in the n-alkalane-assimilating yeast Candida tropicalis". J. Bacteriol. 180 (3): 690–8. PMC 106940. PMID 9457876. [ipfs.io]

• Colitis

  A significant increase in hydrogen peroxide formation was observed in ulcerative colitis biopsies. Conclusion: A defect of mitochondrial acetoacetyl CoA thiolase occurs in ulcerative colitis. [gut.bmj.com]

  Shortly after initiating dietary treatment he presented with severe gastrointestinal problems and the histological features of colitis cystica superficialis. [link.springer.com]

• Liver Biopsy

  Thiolase activities of a needle liver biopsy were seperated by column chromatography on DEAE-cellulose according to Middleton (Biochem.J.132 (1973) 717). [nature.com]

• Hepatocellular Carcinoma

  Disease relevance of ACAT2 We identified hepatic nuclear factor 1 ( HNF1 ) as an important liver-specific trans-acting element for the human ACAT2 gene using the human hepatocellular carcinoma cell lines HuH7 and HepG2 [1]. [wikigenes.org]

As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. [books.google.com]

Treatment with reduced dietary fat was initiated and a rapid reduction of the ketosis to biochemical normality was demonstrated. [link.springer.com]

Lipid Res. (2005) [ Pubmed ] ACAT2 is a target for treatment of coronary heart disease associated with hypercholesterolemia. Rudel, L.L., Lee, R.G., Parini, P. Arterioscler. Thromb. Vasc. [wikigenes.org]

There was no effect from androgen treatment on ACAT1 protein expression in theses cells; however, ACAT2 expression was induced upon R1881 treatment. [genes2cognition.org]

The prognosis is relatively good if acute episodes of ketoacidosis and dehydration are adequately treated. There is abnormal urinary excretion of 2-methyl-3-hydroxybutyric acid, tiglylglycine, and in some instances also 2-methyl-acetoacetic acid. [ncbi.nlm.nih.gov]

ACE I/D, AGT M/T, AT1 A/C, CYP11B2 T/C polymorphism appears to have no relation to the short-term prognosis in HD patients. The mortality did not differ among groups with different genotypes of ACE I/D, AGT M/T AT1 A/C, CYP11B2 T/C polymorphisms. [genes2cognition.org]

RAAS genes are potential etiological candidates for cardiovascular damage. [genes2cognition.org]

Gene Disorder Aliases PubMed IDs acat2 deficiency cytosolic acetoacetyl-coa thiolase deficiency - elite association - COSMIC cancer census association via MalaCards Relevant External Links for ACAT2 Genetic Association Database (GAD) ACAT2 Human Genome Epidemiology [genecards.org]

For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995). [books.google.com]

Fakheri RJ, Javitt NB. (2011) Autoregulation of cholesterol synthesis: physiologic and pathophysiologic consequences. Steroids, 76 (3): 211-5. [PMID:20951718] 14. [guidetopharmacology.org]

Genetic variability may reveal pathophysiological pathways underlying weight gain associated with TZD therapy and due to adiposity and/or edema. [genes2cognition.org]

0% Emergent - ED Care Needed - Preventable/Avoidable - 0% Emergent - ED Care Needed - Not Preventable/Avoidable - 0% Primary diagnosis of injury 0% Primary diagnosis of mental health problems 0% Primary diagnosis of substance abuse 0% Primary diagnosis [codelay.com]

Jingami H, Brown MS, Goldstein JL, Anderson RG, Luskey KL. (1987) Partial deletion of membrane-bound domain of 3-hydroxy-3-methylglutaryl coenzyme A reductase eliminates sterol-enhanced degradation and prevents formation of crystalloid endoplasmic reticulum [guidetopharmacology.org]

Akt functions in: (1) increasing cell proliferation by promoting the degradation of p27 (CDKN1B) through the upregulation of SKP2; (2) enhancing protein translation (and subsequently increasing cell proliferation) by activating mTOR kinase; (3) and preventing [smpdb.ca]

Alpha-keto-isovalerate as a biomarker of prebiotic efficacy for weight gain prevention US9523671B2 ( en ) 2013-03-28 2016-12-20 Nestec S.A. [google.com]

In one approach, alcohol dehydrogenases were deleted, the reactions of the Pdh bypass were overexpressed, and the withdrawal of acetyl-CoA into the glyoxylate cycle was prevented [ 18 ]. [biotechnologyforbiofuels.biomedcentral.com]