中文名称:遗传性酶病 英文名称:hereditary enzymopathy 定义:由于基因突变导致酶蛋白缺失或酶活性异常所引起的遗传性代谢紊乱,又称先天性代谢缺陷(inborn errors of metabolism)。据Mckusick 1988年统计的遗传性代谢病共232种。 应用学科:遗传学(一级学科);医学遗传学(二级学科)。
葡萄糖- 6 -磷酸脱氢酶(G6PD)缺乏症是最常见的遗传性酶病,主要由于G6PD基因突变所致。
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most frequent genetic enzymopathy, mainly caused by mutations of G6PD gene.
亨特氏综合症是二型粘多糖沉积病(MPS II),是一种极其罕见的遗传性酶紊乱疾病,发病者基本只有男性。
Hunter syndrome, known more formally as mucopolysaccharidosis type II or MPS II, is an extremely rare inherited enzyme disorder that occurs almost exclusively in males.
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