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Familial combined hyperlipidaemia: Use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver

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Journal of Inherited Metabolic Disease

Summary

We have assessed very low-density lipoprotein apolipoprotein B production, using [15N]glycine as an endogenous marker in a 9-hour primed constant infusion protocol, in four adult male subjects with familial combined hyperlipidaemia and in four normolipidaemic adult male controls. The mean very low-density lipoprotein apolipoprotein B absolute synthetic rate was significantly greater in the familial combined hyperlipidaemic subjects than in control subjects (26.31 ± 8.37 vs 9.36 ± 4.07 mg/kg per 24 h,p<0.05). These results confirm findings using exogenous radioisotope labelling techniques that very low-density lipoprotein apolipoprotein B production is significantly increased in most patients with familial combined hyperlipidaemia. A modified 9-hour protocol can be safely done repeatedly and in children and pregnant women.

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Cortner, J.A., Coates, P.M., Bennett, M.J. et al. Familial combined hyperlipidaemia: Use of stable isotopes to demonstrate overproduction of very low-density lipoprotein apolipoprotein B by the liver. J Inherit Metab Dis 14, 915–922 (1991). https://doi.org/10.1007/BF01800473

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  • DOI: https://doi.org/10.1007/BF01800473

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