Lipid Metabolism  (脂代谢)

脂质代谢紊乱，也称为血脂异常，是指血液中脂质水平异常，包括甘油三酯和低密度脂蛋白 (LDL) 升高，以及高密度脂蛋白 (HDL) 降低，从而导致胰腺炎、动脉粥样硬化和冠状动脉疾病等疾病。这些疾病源于参与脂肪酸氧化和脂质加工的酶或转运蛋白的基因缺陷，导致脂质代谢受损以及脂质在肝脏、脑和骨髓等组织中毒性蓄积。它们被归类为先天性代谢缺陷，某些类型表现为代谢性肌病。关键相关基因包括与肝脂肪酶活性相关的 LIPC 基因，以及涉及脂质和阳离子转运的途径。III 型高脂蛋白血症和家族性低β脂蛋白血症等疾病与这些疾病相关。治疗可能包括针对特定病例的酶替代疗法，而生活方式改变和匹伐他汀和缬沙坦等药物则用于控制血脂水平。新生儿筛查和基因检测在早期发现和携带者识别中发挥着至关重要的作用。

Disorders of lipid metabolism, also known as dyslipidemia, involve abnormal levels of lipids in the blood, including elevated triglycerides and low-density lipoprotein (LDL), and reduced high-density lipoprotein (HDL), leading to conditions such as pancreatitis, atherosclerosis, and coronary artery disease. These disorders arise from genetic defects in enzymes or transport proteins involved in fatty acid oxidation and lipid processing, resulting in impaired lipid metabolism and toxic accumulation of lipids in tissues like the liver, brain, and bone marrow. They are classified as inborn errors of metabolism, with some forms presenting as metabolic myopathy. Key genes implicated include LIPC, associated with hepatic lipase activity, and pathways involving lipid and cation transport. Conditions such as hyperlipoproteinemia type III and familial hypobetalipoproteinemia are linked to these disorders. Management may include enzyme replacement therapy for specific cases, while lifestyle modifications and medications like Pitavastatin and Valsartan are used to control lipid levels. Newborn screening and genetic testing play crucial roles in early detection and carrier identification.

参考文献: