Gaucher disease: A current perspective
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https://doi.org/10.61705/9k4h5e48Keywords:
Gaucher disease, Glucocerebrosidase, Enzyme replacement therapy, Substrate reduction therapy, Genetic disorder, Rare diseaseAbstract
Gaucher disease, a rare genetic disorder, has long been a subject of intrigue and investigation in the field of medical genetics. This paper offers a contemporary overview of Gaucher disease, shedding light on its pathogenesis, clinical manifestations, diagnostic approaches, and evolving therapeutic strategies. Gaucher disease, characterized by a deficiency of the enzyme glucocerebrosidase, leads to the accumulation of glucocerebroside within various tissues, resulting in a spectrum of clinical phenotypes. We delve into the intricacies of the disease's underlying genetics, exploring the diverse mutations that contribute to its heterogeneity. Clinical manifestations of Gaucher disease span a wide spectrum, encompassing hepatosplenomegaly, thrombocytopenia, and bone involvement. This paper comprehensively outlines the clinical presentation and the importance of early diagnosis in improving patient outcomes. Gaucher disease continues to intrigue researchers and clinicians alike, and this comprehensive overview aims to contribute to our collective understanding of this complex genetic disorder.
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