[Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)].
Sphingomyelinase activities have been assayed either in the presence of detergents or by an activator method, in control subjects and patients with Niemann-Pick disease types A, B and C. The activity of this enzyme assayed with detergents compared with that for control subjects is markedly reduced in Niemann-Pick disease types A or B but not in type C. With the activator method, the enzymic activity is strongly reduced in patients with type C (30%) of the control data). This paper describes a reasonably satisfactory method for enzymic diagnosis of Niemann-Pick disease type C. Hypotheses for enzymic mutations in these three types of Niemann-Pick disease are put forward.
D003937:Diagnosis, Differential; D004789:Enzyme Activation; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000201:enzymology; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D012867:Skin / Q000201:enzymology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase
Activateur des sphinhgohydrolases et nature du déficit en sphingomyélinase dans la maladie de Niemann-Pick type A, B et C