Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations

作者：Castilhos Cristina D; Mezzalira Jamila; Goldim Mariana P S; Daitx Vanessa V; Garcia Cristina da S; Andrade Carla V; Breier Ana C; Ce Jaqueline; Mello Alexandre S; Coelho Janice C^*

来源：Gene, 2014, 536(2): 344-347.

DOI：10.1016/j.gene.2013.11.101

• Dried blood spots on filter paper
• Lysosomal storage diseases
• Screening high risk populations

This study aimed to determine the enzymatic activity in dried blood samples collected on filter paper (DBS) for the diagnosis of the following diseases: Fabry, Pompe, Mucopolysaccharidosis type I (MPS I) and Mucopolysaccharosis type VI (MPS VI). DBS was used for high risk patientscreening, according to clinical suspicion. Plasma, leukocytes and cultured fibroblasts were used to confirm the diagnosis when necessary. Among the 529 DBS samples sent to the laboratory, 164 had abnormal results. Confirmatory materials of 73 individuals were rerouted. The frequency of diagnosis for lysosornal storage disorders was 5.9%. DBS is an alternative screening technique used in high risk populations, which should lead to earlier diagnosis for lysosomal storage disorders (LSDs), help patients get treatment sooner and improve the outcome of the disease.

• 出版日期2014-2-25