Since summer 2014, we start the FIND project. This project is result of collaboration with the Asociación MPS España to perform a screening based on symptoms in children.

The screening is currently underway determining the glycosaminoglycans (GAG) levels in a urine sample impregnated on paper. Through participation of Spanish pediatricians, we have received 71 samples and we have been identified 4 cases of mucopolysaccharidosis (MPS): one for each of following types I, II, III and VI.

The GAG’s determination using urine-impregnated filter paper seems a fast, simple and reliable MPS screening.

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.

To make use of the recently introduced enzyme replacement therapy for Hunter disease (mucopolysaccharidosis II [MPS II]) and the currently available molecular study of the families in order to identify male patients and female carriers of the pathogenic mutations, the early diagnosis of the patients is essential. As there is still no definitive test for neonatal screening for MPS II, the diagnosis of the disease depends on the correct interpretation of the signs and symptoms of the patients and on the judicious use of complementary examinations by primary care physicians.