To examine the role of single allele lipoprotein lipase (LpL) structural defects in lipoprotein metabolism, and explain the possible reasons for altered clinical expression in heterozygous LpL deficiency, we propose to study 15 patients with heterozygous LpL deficiency and 3 homozygotes (LpL defects in both alleles). ApoB-100 and apoB48 production and catabolic rates will be determined on a metabolic ward, during a 15 hour infusion of deuterated leucine in the continuously fed state, and a bolus infusion of 13C-leucine.
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