Diagnosis of Niemann-Pick disease by analysis of hair-roots

Abstract

A micromethod for the measurement of sphingomyelinase in hair root lysates was described. With this method, 22 normal individuals, 3 children affected with Niemann-Pick disease and 2 carriers have been studied. It seems clear that Niemann-Pick homozygotes can be diagnosed definitively, but more extensive studies arenecessary to decide if carrier detection with hair-roots is possible. The particular interest of using hair roots is that the material can be sampled easily and mailed without special precautions.