Sphingomyelinase activity in a patient with Niemann-Pick disease
Sengers, R.C.; Wevers, R.A.; van Haelst, U.J.; Smeets, H.L.
Tijdschrift Voor Kindergeneeskunde 57(2): 70-73
1989
ISSN/ISBN: 0376-7442 PMID: 2545015 Document Number: 343479
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.