Proyecto FINDLa importancia de un diagnóstico precoz
ISSN: 0001-6640
Year of publication: 2015
Volume: 73
Issue: 3
Pages: 56-59
Type: Article
More publications in: Acta pediátrica española
Abstract
The mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal diseases caused by the enzymatic deficiency of glycosaminoglycans (GAG) degradation. Due to recent treatment advances and the fact that early diagnosis and treatment implicate a better clinical outcome, we have started the FIND project. This project is a selective screening to detect possible MPS cases in children using urine and blood samples impregnated in analytical paper, easily obtained in the Pediatrician consultation and supplied in the FIND kit. We carry out the GAG determination on urine sample. Over those urine samples with an elevated GAG concentration; we can perform the enzymatic activity on the blood sample, in order to identify the possible enzyme defect.