Open AccessEvaluation of α‐iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis
Author(s) -
Müller Karen B.,
Pereira Vanessa G.,
Martins Ana M.,
D'Almeida Vânia
Publication year - 2011
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.20468
Subject(s) - mucopolysaccharidosis type i , mucopolysaccharidosis i , dried blood , newborn screening , mucopolysaccharidosis , enzyme replacement therapy , dried blood spot , medicine , reference range , lysosomal storage disease , chemistry , chromatography , pediatrics , disease
Background : Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the α‐ L ‐iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. MPS I patients present a spectrum ranging from a severe to an attenuated phenotype. Once clinical suspicion is present, diagnosis of MPS I can be performed by enzyme activity determination and/or molecular analysis. The aim of this study was to establish a reference interval value to IDUA activity using a dried blood spots (DBS) assay and to evaluate whether this assay could be a secure tool to diagnose MPS I patients. Results : IDUA activity range on HV DBS samples were 1.40–7.78 µmol/l blood/hr. Regarding the validation group, 11 of the 36 individuals clinically suspected of MPS I had the diagnosis confirmed by DBS and reference assay (leukocytes). When we considered the new proposed cutoff value of 1.5 µmol/l blood/hr, the sensitivity, specificity, and predictive values were 100%. Conclusions : Our results strongly suggest that the determination of IDUA activity using a DBS assay is a secure tool for MPS I diagnosis. However, it is extremely important to assure that all recommendations for collection, transport, and storage are correctly followed to guarantee the quality of the samples. J. Clin. Lab. Anal. 25:251–254, 2011. © 2011 Wiley‐Liss, Inc.