Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis
✍ Scribed by Karen B. Müller; Vanessa G. Pereira; Ana M. Martins; Vânia D'Almeida
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 103 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0887-8013
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✦ Synopsis
Abstract
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.