Gaucher, also referred to as Gaucher’s is an autosomal recessive disease and the most prevalent Lysosomal Storage Disorder (LSD) and is present in approximately 1 in 20,000 live births. Gaucher disease, also known as glucocerebrosidase deficiency, occurs when a certain lipid, glucosylceramide, accumulates in the bone marrow, lungs, spleen, liver and sometimes the brain. Despite the fact that the disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement.
Colegio Público Seis de Diciembre (Colmenarejo)
Centro público con recursos de apoyo a la integración educativa en educación infantil y en enseñanza primaria en Madrid-Oeste.