Pompe's disease: detection of heterozygotes by lymphocyte stimulation.
A technique has been developed for the detection of inborn errors by multiple enzyme analysis of lymphocytes stimulated by phytohemagglutinin. Its practicality has been demonstrated in Pompe's disease in which there is a deficiency of acid alpha-1,4-glucosidase (E.C.3.2.1.20).
D004796:Clinical Enzyme Tests; D046508:Culture Techniques; D005959:Glucosidases / Q000097:blood*; D006579:Heterozygote; D006801:Humans; D037102:Lectins; D008214:Lymphocytes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics
D037102:Lectins; D005959:Glucosidases