82: Cytosolic acetoaceryl-CoA thiolase deficiency
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چکیده
منابع مشابه
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene.
BACKGROUND The human mitochondrial trifunctional protein (MTP) complex is composed of 4 hydroacyl-CoA dehydrogenase-alpha (HADHA) and 4 hydroacyl-CoA dehydrogenase-beta (HADHB) subunits, which catalyze the last 3 steps in the fatty acid beta-oxidation spiral of long-chain fatty acids. The HADHB gene encodes long-chain ketoacyl-CoA thiolase (LCTH) activity, whereas the HADHA gene contains the in...
متن کاملAntifungal activity of Saccharomyces cerevisiae peroxisomal 3-ketoacyl-CoA thiolase.
Peroxisomes play an important role in cellular defense systems and generate secondary messengers for cellular communication. Saccharomyces cerevisiae containing oleate-induced peroxisomes were subjected to buffer-soluble extraction and two chromatographic procedures, and a protein with antifungal activity was isolated. The results of MALDI-TOF analysis identified the isolated protein as peroxis...
متن کاملDifferent clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.
Mitochondrial acetoacetyl-CoA thiolase (T2) catalyzes 2-methylacetoacetyl-CoA cleavage into acetyl-CoA and propionyl-CoA in isoleucine catabolism and interconversion between acetyl-CoA and acetoacetyl-CoA in ketone body metabolism. T2 deficiency is a rare metabolic disease of autosomal recessive inheritance. The disorder is characterized by intermittent ketoacidotic episodes. The onset of clini...
متن کاملReinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
In this report, we reinvestigate the only patient ever reported with a deficiency of peroxisomal 3-ketoacyl-CoA thiolase (THIO). At the time when they were described, the abnormalities in this patient, which included accumulation of very-long-chain fatty acids and the bile-acid intermediate trihydroxycholestanoic acid, were believed to be the logical consequence of a deficiency of the peroxisom...
متن کاملThe mitochondrial long-chain trifunctional enzyme: 2-enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase and 3-oxoacyl-CoA thiolase.
28 Brand, M. B., Harper, M.-E. and Taylor, H. C. (1993) Biochem. J. 291,739-748 29 Atkinson, D. (1977) Cellular Energy Metabolism and its Regulation, pp. 260-263, Academic Press, New York 30 Cornish-Bowden, A. (1983) Biochem. SOC. Trans. 11, 44-45 3 1 Scholz, R., Schwabe, U. and Soboll, S. (1 984) Eur. J. Biochem. 141,223-230 32 Williamson, J. R., Jakob, A. and Scholz, R. (1971) Metabolism 20, ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1976
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-197610000-00073