Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidation.
作者： R.J.A. Wanders , L. Ijlst , F. Poggi , J.P. Bonnefont , A. Munnich
DOI: 10.1016/0006-291X(92)91350-Y
关键词:
摘要: Abstract In this paper we report the identification of a new disorder mitochondrial fatty acid β-oxidation in patient which presented with clear manifestations disorder. Subsequent studies fibroblasts revealed an impairment palmitate and addition, combined deficiency long-chain enoyl-CoA hydratase, longchain 3-hydroxyacyl-CoA-dehydrogenase 3-oxoacyl-CoA thiolase. The recent multifunctional, membrane-bound 9-oxidation enzyme protein catalyzing all these three activities (Carpenter et al. (1992) Biochem. Biophys. Res. Commun. 183, 443–448; Uchida J. Biol. Chem. 267, 1034–1041) suggested underlying basis for peculiar combination deficiencies. We show by means size-exclusion chromatography that there is, indeed, multifunctional patient.
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