A profound deficiency of (CH3-14C)choline sphingomyelin-cleaving enzyme in Niemann-Pick disease type B.
[Methyl-14C]sphingomyelin was synthesized by the method of Stoffel et al. (1971). A profound deficiency of sphingomyelinase activity was found in liver tissue from two sibling patients with Niemann-Pick disease type B.
D000293:Adolescent; D002648:Child; D006801:Humans; D008099:Liver / Q000201:enzymology; D008297:Male; D009542:Niemann-Pick Diseases / Q000201:enzymology* / Q000235:genetics; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase