应用^(14)C鞘磷脂为基质测定鞘磷脂酶活性-诊断和产前诊断Niemann-Pick病的方法

Diagnosis and prenatal diagnosis of NiamannPick disease:Assays of sphingomyelinase using[ 14 C] sphingomyelin.

神经鞘磷脂贮积症（Ｎｉｅｍａｎｎ－Ｐｉｃｋ）是一种严重的致命的先天性代谢障碍病，由于鞘磷脂酶缺乏引起。临床症状常与Ｇａｕｃｈｅｒ′ｓ，病以及其他一些先天性代谢病相似。早期诊断尤为重要。本文报道应用１４Ｃ－鞘磷脂为基质，测定正常早孕绒毛细胞，培养的皮肤成纤维细胞以及白细胞的鞘磷脂酶活性的结果以供临床鉴别诊断时参考。本法比较以前采用的成色底物法灵敏、准确、简便。

SphingomyelinCholesterol lipidose (NiemannPick disease)is a serious and fatal inherited metabolic disorder caused by deficiency of sphingomyelinase.The clinical symptoms are similar to Gaucher's disease and other inherited metabolic disease.Diagnose early is important.In this report we present the results of sphingomyelinase activity of normal chorionic villus cells during early pregnancy,cultured skin fibroblasts and leukocytes measuered with [ 14 C] sphingomyelin as a refereace for differential diagnosis.This method is more simple and accurate than colorimetry.