Article
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.
Blood - 20 Oct 2011
Dekker Nick, van Dussen Laura, Hollak Carla E M, Overkleeft Herman, Scheij Saskia, Ghauharali Karen, van Breemen Mariëlle J, Ferraz Maria J, Groener Johanna E M, Maas Mario, Wijburg Frits A, Speijer Dave, Tylki-Szymanska Anna, Mistry Pramod K, Boot Rolf G, Aerts Johannes M
Abstract excerpt
Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages (Gaucher cells). Here we show glucosylsphingosine, the deacylated form of glucosylceramide, to be markedly increased in plasma of symptomatic nonneuronopathic (type 1) Gaucher patients (n = 64, median = 230.7 nM, range 15.6-1035.2 nM; normal (n =...
Topics
- Chemokines, CC
- Enzyme Replacement Therapy
- Enzyme Therapy
- Female
- Gaucher Disease
- Genotype
- Glucosylceramidase
- Hexosaminidases
- Humans
- Macrophages