Erdem N.Buran T.Berber I.Aydogdu I.2024-07-222024-07-22201800279684http://akademikarsiv.cbu.edu.tr:4000/handle/123456789/14877Gaucher disease is a lipid storage disorder due to deficiency of beta glucocerebrosidase. It's an autosomal recessive disease and as a result of this enzyme deficiency, glucocerebroside accumulates in various types of tissues like liver, brain spleen and bone marrow. We aimed to describe the effects of enzyme replacement therapy in three members of a family with Gaucher disease and to emphasize screening of the family members of the patients with Gaucher disease. Furthermore, late diagnosis and treatment in these patients have a minimal effect on improvement of the quality of life, and early diagnosis and treatment are very important in Gaucher disease. © 2017 National Medical AssociationEnglishAdolescentDNA Mutational AnalysisEnzyme Replacement TherapyGaucher DiseaseGlucosylceramidaseHemoglobinsHumansMaleMiddle AgedSplenomegalyglucosylceramidaseglucosylceramidehemoglobinimigluceraseglucosylceramidasehemoglobinimigluceraseadolescentadultArticleblood cell countblood smearbone marrow biopsycase reportclinical articleearly diagnosisecchymosisechographyenzyme replacementepistaxisfamilyfamily historyfatiguefollow upGaucher diseasegene mutationhemoglobin blood levelhepatomegalyhepatosplenomegalyhip painhomozygotehumanhuman tissueknee painleukocyte countleukopeniamalemiddle agedpancytopeniaplatelet countpriority journalquality of lifescreeningsplenectomysplenomegalythrombocytopeniacomplicationdna mutational analysisGaucher diseasegeneticssplenomegalyArticle10.1016/j.jnma.2017.06.013