Hyperlipoproteinemia I pattern was found in three 14, 11, 6 year old siblings by LPelectrophoresis and ultracentrifugation. Chylomicrons were inducable by 50% dietary fat, not carbohydrate. Bone maturation was delayed, thyroid function normal. All had stunted growth STH levels after arginine, insulin, glucose were normal. I.v. glucose loading revealed increased glucose assimilation. Stimulation of lipolysis in vivo with glucagon and orciprenaline /100 ng/kg/min ea./ was significantly lower /p < 0.01 resp. < 0.025/ than in unaffected controls. During these stimulations plasma levels of cAMP increased to significantly higher levels /p < 0,05 resp. < 0.025/ than in controls. These results indicate a defect in adenylcyclase-cAMP-protein-kinase-triglyceridlipase system. Since plasmatic cAMP rises to higher levels than normal we assume that the cAMP binding enzyme, proteinkinase, is deficient or inactive in the lipolytic cascade and in glycogen metabolism.
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机译：通过LP电泳和超速离心在3个14、11、6岁的同胞中发现高脂蛋白I型。乳糜微粒是由50％的饮食脂肪而不是碳水化合物诱导的。骨成熟延迟，甲状腺功能正常。精氨酸，胰岛素，葡萄糖正常后，所有人的生长STH水平均受阻。 I.v.葡萄糖负荷显示葡萄糖同化增加。胰高血糖素和甲肾上腺素/ 100 ng / kg / min ea./的体内脂解刺激显着降低/ p <0.01。 <0.025 /而不是未受影响的对照。在这些刺激过程中，血浆cAMP的水平增加到明显更高的水平/ p <0.05。 <0.025 /比对照组。这些结果表明腺苷酸环化酶-cAMP-蛋白激酶-甘油三脂酶系统存在缺陷。由于血浆中的cAMP升高至比正常水平更高的水平，我们认为cAMP结合酶蛋白激酶在脂解级联反应和糖原代谢中缺乏或无活性。
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