Enzyme Replacement Therapy in a Gaucher Family
JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, vol.110, no.4, pp.330-333, 2018 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 110 Issue: 4
- Publication Date: 2018
- Doi Number: 10.1016/j.jnma.2017.06.013
- Journal Name: JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.330-333
- Keywords: Gaucher, Enzyme replacement therapy, Early treatment, DISEASE, MUTATIONS, TYPE-1, RECOMMENDATIONS, IDENTIFICATION
- Inonu University Affiliated: Yes
Abstract
Gaucher 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 Fie, and early diagnosis and treatment are very important in Gaucher disease.