Gaucher's disease (GD) results from a deficiency of the lysosomal enzyme 
glucocerebrosidase and, in very rare occasions, a deficiency of its activator, 
the saposin C. The complexity of identification and characterization of 
mutations in the gene of glucocerebrosidase (GBA1) is caused by a great amount 
of mutated alleles, the existence of a highly homologous pseudogene and its 
location in a very rich zone in genes, which promotes the presence of complex 
alleles. Although genotype-phenotype correlations in EG are not completely 
established, there are a series of generalities, as the mutation c.1226A>G 
(N370S) is often associated with a certain degree of neuroprotection and the 
homozygosity for the c.1448T>C (L444P) mutation presents with neurological 
symptoms.