Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: Implications for the prediction of disease severity

Abstract

Gaucher disease is a lysosomal storage disorder characterized by a deficiency of the enzyme acid beta-glucosidase. The clinical manifestations of Gaucher disease are highly variable, and although certain genotypes are often associated with mild or severe symptoms, a defined correlation between genotype and phenotype does not exist. Identification of biochemical markers characteristic of pathology may be of use in predicting the progression of the disease state. In this study the relationship among genotype, glycolipid substrates, lysosomal proteins, and the clinical manifestations of Gaucher disease has been evaluated. Plasma glycolipids were analyzed using electrospray ionization-tandem mas..