Gaucher Disease in Six Filipino Children: a Case Series
DOI:
https://doi.org/10.47895/amp.v42i2.2404Keywords:
Gaucher Disease
acid beta-glucosidase
glucocerebroside
hepatosplenomegaly
erlenmeyer flask deformity
enzyme replacement therapy
Abstract
Six Filipino children with Gaucher disease are presented. All patients manifested marked hepatosplenomegaly, hematologic and skeletal abnormalities. The diagnosis was confirmed through bone marrow aspiration by demonstration of the characteristic ‘Gaucher cells’ and by leukocyte enzyme assay indicating deficient acid beta-glucosidase. Mutation analysis of the GBA gene was done in one patient. Two patients are receiving enzyme replacement therapy.