5C61.3
α,α海藻糖酶缺乏
Alpha, alpha trehalase deficiency
- 层级
- 5 级
定义
α,α-海藻糖酶缺乏症的特征是在摄入海藻糖(一种主要存在于蘑菇中的双糖)后腹泻和呕吐。这种疾病在大多数人群中非常罕见,但据估计格陵兰岛的发病率至少为13分之一。孤立性海藻糖不耐受是由于缺乏海藻糖酶(TREH;11q23.3),一种刷状缘膜糖蛋白。
Alpha, alpha trehalase deficiency is characterised by diarrhoea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms. The disease is very rare in most populations but the incidence has been estimated at least 1 in 13 in Greenland. Isolated trehalose intolerance is due to a deficiency of trehalase (TREH; 11q23.3), a brush-border membrane glycoprotein.
索引词 可用于检索该条目的同义词与别名
- α,α海藻糖酶缺乏
英文词条(1)
- Alpha, alpha trehalase deficiency
后组配轴 Postcoordination
该条目未定义后组配轴,直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式,不是必填项。