Gaucher disease is an inborn error of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme β-glucosidase (1)(2). Acid β-glucosidase is responsible for the cleavage of the β-glucosidic bond of its primary substrate glucosylceramide, an intermediate in the catabolism of globoside and gangliosides. Gaucher disease is the most prevalent lysosomal storage disorder with an estimated frequency of 1 in 57 000 births in Australia(3). The disease has been broadly classified into 3 clinical subtypes, but a broad spectrum of phenotypes exists within each group(1). Type 1, the most common, is a chronic nonneuronopathic form of the disease associated with various degrees of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease. Clinical onset may occur at any age, but usually occurs after childhood and in some instances does not manifest until later adulthood. Type 2 is an acute neuronopathic form of the disease, characterized by early onset, severe central nervous system impairment, and death, usually by the second year of life. Type 3 is a subacute neuronopathic form, usually with a more chronic course and later onset than type 2. More than 187 mutations in the β-glucosidase gene have been associated with Gaucher disease (4), although there are rare instances of mutations in the prosaposin gene producing a Gaucher phenotype(5). Defined correlations between genotype and phenotype are not overly apparent, and there is broad phenotypic expression among all genotypes. A notable exception is the association of homozygosity for the L444P mutation with neuronopathic disease; similarly, the presence of the N370S allele precludes neuronopathic disease(6)(7). Patients with the nonneuronopathic form of the disease are treated with enzyme replacement therapy (8)(9), which may also slow the progression of neuronopathic disease(10). Early and accurate diagnosis for Gaucher disease, as well as the prediction …