title: Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
abstract: Gaucher disease (GD), the most common lysosomal storage disease, results from a deficiency of the lysosomal enzyme glucocerebrosidase. GD has been classified into 3 types, of which type 2 (the acute neuronopathic form) is the most severe, presenting pre- or perinatally, or in the first few months of life. Traditionally, type 2 GD was considered to have the most uniform clinical phenotype when compared to other GD subtypes. However, case studies over time have demonstrated that type 2 GD, like types 1 and 3, manifests with a spectrum of phenotypes. This review includes case reports that illustrate the broad range of clinical presentations encountered in type 2 GD, as well as a discussion of associated manifestations, pathological findings, diagnostic techniques, and a review of current therapies. While type 2 GD is generally associated with severe mutations in the glucocerebrosidase gene, there is also significant genotypic heterogeneity.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3708, USA.
authors.forename: N
authors.initials: N
authors.lastname: Gupta
authors.forename: I M
authors.initials: IM
authors.lastname: Oppenheim
authors.forename: E F
authors.initials: EF
authors.lastname: Kauvar
authors.forename: N
authors.initials: N
authors.lastname: Tayebi
authors.forename: E
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D005260:Female; D005776:Gaucher Disease / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology / Q000628:therapy; D014644:Genetic Variation; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype
chemical_list: D005962:Glucosylceramidase