ba0003pp390 | Other diseases of bone and mineral metabolism | ECTS2014
Vergara Cristina
, Martinez-Ferrer Angels
, Fernandez Miguel
, Vicens Elvira
, Ybanez Desamparados
, Valls Elia
, De la Morena Isabel
, Oller Jose
, Alegre Juan Jose
Introduction: Gaucher disease (GD), the most prevalent glycolipid storage disease, is an autosomal recessive metabolic disorder that is caused by an inherited deficiency of the lysosomal enzyme, glycocerebrosidase. This defect leads to reduce enzyme activity, resulting in the accumulation of glucosylceramide in cells of the monocyte-macrophages linage, known as Gaucher cells. Common presenting features include anemia, thrombocytopenia, hepatosplenomegaly and bone abnormalities...