ReviewCarnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
Section snippets
CPT-system
Transport of LCFA from cytosol into the mitochondrial matrix of mammalian cells via β-oxidation requires a special protein association, the carnitine palmitoyltransferase system that reversibly catalyzes the following reaction:
Since 1963 (Fritz et al., 1963), it has generally been accepted that at least two functionally separate forms of CPT existed: an “outer” CPT1 which catalyzes the formation of acylcarnitine from carnitine and acyl-CoA, and
Liver-type CPT1 (CPT1-A) deficiency
In the small number of cases reported to date, the affected enzyme is clearly the “liver” isoform. Since the first report in 1981 (Bougneres et al., 1981), over 20 families have been reported (Demaugre et al., 1988; Tein et al., 1989; Bonnefont et al., 1989; Vianey-Saban et al., 1993; Gray et al., 1991; Stanley et al., 1992; Haworth et al., 1992; Falik-Borenstein et al., 1992; Yamamoto et al., 1994; Bergman et al., 1994; Schaefer et al., 1997; Innes et al., 1997; Ijlst et al., 1998; Olpin et
Acknowledgements
The support of l'Association Française contre les Myopathies is gratefully acknowledged.
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