APOB AND APOA1 KINETICS IN HETEROZYGOUS LIPOPROTEIN LIPASE DEFICIENCY

为了研究单等位基因脂蛋白脂酶（LpL）结构在 脂蛋白代谢缺陷，并解释可能的原因 杂合子型LpL缺乏症的临床表达改变，我们提出， 研究15例杂合性LpL缺乏症患者和3例纯合子 (LpL两个等位基因中的缺陷）。 ApoB-100和apoB 48的产生和 分解代谢率将在代谢病房确定，在15小时内， 在连续进食状态下输注氘代亮氨酸， 输注13 C-亮氨酸。

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.