[Sphingomyelinase activity in a patient with Niemann-Pick disease].
In a few months old baby a visceromegaly was found, without other clinical abnormalities. Using an artificial substrate a deficiency of sphingomyelinase could not be demonstrated. Histopathological examination of biopsied liver revealed a lipid storage disease. Using the natural substrate the deficiency of sphingomyelinase could be demonstrated in leucocytes and in cultured fibroblasts.
Sengers
R C
RC
St. Radboudziekenhuis, Nijmegen.
Wevers
R A
RA
van Haelst
U J
UJ
Smeets
H L
HL
D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology*; D008297:Male; D009542:Niemann-Pick Diseases / Q000378:metabolism / Q000473:pathology*; D010727:Phosphoric Diester Hydrolases / Q000378:metabolism*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency / Q000378:metabolism*
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase
De activiteit van sfingomyelinase bij een patiënt met de ziekte van Niemann-Pick.