Gaucher disease (GD) is the most common lysosomal storage disease worldwide. The incidence of the disease is significantly higher in certain ethnic groups, such as in Ashkenazi Jews. Mutation in the GBA1 gene results in a decreased catabolic enzymatic activity of the enzyme glucocerebrosidase which leads to the accumulation of glucocerebroside in various organs and their dysfunction. Other genetic mutations at different loci seem to modify the severity of the disease by unclear mechanisms. GD is differentiated into three types. Currently, the common understanding of the disease suggests a spectrum of presentations, ranging from asymptomatic to extremely severe disease rather than three separate entities. Three types of classification of disease are in use, indicating severity and organ system affected in patients.Type 1, known as nonneuropathic, mostly affects the bones, spleen, liver and bone marrow. Type 2 and 3, known as the neuropathic forms of the disease, differing in severity, age of diagnosis, rate of progression and life expectancy. GD2 usually manifests during infancy and has an accelerated progression the results in mortality during 2nd to 4th years of life. Type 3 varies more in presentation and severity. The most common clinical findings in children with GD 1 are hepatosplenomegaly, anemia, and thrombocytopenia. Clinical findings that increase the suspicion for GD require a definitive diagnosis using glucocerebrosidase assay. Before initiation of treatment, a complete baseline assessment is performed to assess severity and to set goals for treatment. The specific treatment for GD in children is enzyme replacement therapy (ERT). This therapy was shown to lower morbidity and complication related to the disease. None of the neuropathic symptoms presenting in GD2 and GD3 seemed to benefit from ERT. These patients will benefit from ERT only in cases of visceral and bone involvement. The follow up of pediatric patients with GD is a lifelong journey that will require regular checks which are essential to assess the efficacy of the treatment and the need for modifications.