Bujo H, Saito Y
Second Department of Internal Medicine, Chiba University School of Medicine.
Nihon Rinsho. 1993 Feb;51(2):482-7.
Lecithin: cholesterol acyltransferase (LCAT) is the enzyme that catalyzes the esterification of free cholesterol in plasma lipoproteins. Familial LCAT deficiency, which is a rare hereditary disorder of lipid metabolism, inherited as an autosomal recessive trait, is characterized by corneal opacity, anemia and frequently, though not invariably, renal failure. Recently, LCAT cDNA and gene have been cloned. Studies on DNA samples from unrelated patients with familial LCAT deficiency and fish eye disease, which is characterized by severe corneal opacity alone, revealed both diseases to be caused by respective mutations of the LCAT gene. It is suspected that defect or functional abnormality of LCAT, caused by these genetic defects, underlie the various clinical and biochemical characteristics observed in LCAT deficiency or fish eye disease.
卵磷脂胆固醇酰基转移酶（LCAT）是催化血浆脂蛋白中游离胆固醇酯化的酶。家族性LCAT缺乏症是一种罕见的脂质代谢遗传性疾病，以常染色体隐性性状遗传，其特征为角膜混浊、贫血，且常伴有肾衰竭（但并非总是如此）。最近，LCAT的互补DNA（cDNA）和基因已被克隆。对患有家族性LCAT缺乏症的非亲缘患者以及仅以严重角膜混浊为特征的鱼眼病患者的DNA样本进行研究发现，这两种疾病都是由LCAT基因的各自突变引起的。据推测，由这些基因缺陷导致的LCAT缺陷或功能异常是LCAT缺乏症或鱼眼病中观察到的各种临床和生化特征的基础。
