A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase.
A new type (F) of Niemann-Pick disease characterised by childhood onset of splenomegaly, lack of neurological involvement, and diminished sphingomyelinase activity is described. The clinical presentation and heat-labile sphingomyelinase activity of this type F Niemann-Pick disease distinguishes it from other types of Niemann-Pick disease.
D002478:Cells, Cultured; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007700:Kinetics; D008297:Male; D009542:Niemann-Pick Diseases / Q000201:enzymology*; D010375:Pedigree; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D012867:Skin / Q000201:enzymology; D013108:Sphingomyelin Phosphodiesterase / Q000235:genetics* / Q000378:metabolism
D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase