细胞色素P450氧化还原酶缺乏症：一种具有多种临床表现的新型类固醇生成障碍疾病。
P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.
作者信息
Miller Walter L
机构信息
Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143-0978, USA.
出版信息
Trends Endocrinol Metab. 2004 Sep;15(7):311-5. doi: 10.1016/j.tem.2004.07.005.
Combined partial deficiency of 17alpha-hydroxylase and 21-hydroxylase is well-described, but patients' genes for these enzymes lack mutations. Recent work has identified mutations in the gene for P450 oxidoreductase (POR) in such patients. POR-deficient individuals have a broad range of disorders, from infants with congenital malformations to women with the polycysic ovary syndrome. POR transfers electrons to all microsomal P450 enzymes: its deficiency affects steroidogenesis, drug metabolism and other processes.
17α-羟化酶和21-羟化酶联合部分缺乏症已有详细描述，但这些酶的患者基因未发现突变。最近的研究在这类患者中发现了细胞色素P450氧化还原酶（POR）基因的突变。POR缺乏的个体有广泛的疾病，从患有先天性畸形的婴儿到患有多囊卵巢综合征的女性。POR将电子传递给所有微粒体细胞色素P450酶：其缺乏会影响类固醇生成、药物代谢和其他过程。
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