Diagnosis of Niemann-Pick disease by analysis of hair-roots.
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.
D004796:Clinical Enzyme Tests; D006580:Genetic Carrier Screening; D006197:Hair / Q000201:enzymology*; D006596:Hexosaminidases / Q000378:metabolism; D006720:Homozygote; D006801:Humans; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000378:metabolism*; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase; D006596:Hexosaminidases