Article
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
Molecular genetics and metabolism - 1 Aug 2002
Orvisky Eduard, Park Joseph K, LaMarca Mary E, Ginns Edward I, Martin Brian M, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, presents with a wide spectrum of clinical manifestations including neuronopathic and non-neuronopathic forms. While the lipid glucosylceramide is stored in both patients with Gaucher disease and in a null allele mouse model of Gaucher disease, elevated levels of a second potentially toxic substrate, glucosylsphingosine, are also found....
Topics
- Adolescent
- Adult
- Brain
- Child
- Child, Preschool
- Chromatography, High Pressure Liquid
- Female
- Gaucher Disease
- Genotype
- Humans
- Infant