Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type I
Open Access
- 20 January 2015
- journal article
- unit
- Published by Wiley in Current Protocols in Human Genetics
- Vol. 84 (1), 17.17.1-17.17.8
- https://doi.org/10.1002/0471142905.hg1717s84
Abstract
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to deficiency of alpha iduronidase (IDUA). Progressive storage of dermatan and heparan sulfate throughout the body lead to a multiorgan presentation including short stature, dysostosis multiplex, corneal clouding, hearing loss, coarse facies, hepatosplenomegaly, and intellectual disability. Diagnosis of MPS I is based on IDUA enzyme analysis in leukocytes or dried blood spots (DBS) followed by molecular confirmation of the IDUA gene mutations in individuals with low enzyme activity. The advent of mass spectrometry methods for enzyme analysis in DBS has enabled high‐throughput screening for MPS I in symptomatic individuals and newborn infants. The following unit provides the detailed analytical protocol for measurement of IDUA activity in DBS using tandem mass spectrometry. © 2015 by John Wiley & Sons, Inc.Keywords
This publication has 22 references indexed in Scilit:
- Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platformClinica Chimica Acta; International Journal of Clinical Chemistry, 2013
- Evaluation of α-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosisJournal of Clinical Laboratory Analysis, 2011
- A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)Clinical Chemistry, 2010
- Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disordersJournal of Inherited Metabolic Disease, 2006
- Clinical presentation and follow‐up of patients with the attenuated phenotype of mucopolysaccharidosis type IActa Paediatrica, 2005
- Tandem Mass Spectrometric Analysis of Dried Blood Spots for Screening of Mucopolysaccharidosis I in NewbornsClinical Chemistry, 2005
- The first 5years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis IExpert Opinion on Pharmacotherapy, 2005
- Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn ScreeningClinical Chemistry, 2004
- Structure and sequence of the human α-l-iduronidase geneGenomics, 1992
- Fluorometric measurement of .ALPHA.-L-iduronidase activity using 4-methylumbelliferyl-.ALPHA.-L-iduronide.The Tohoku Journal of Experimental Medicine, 1980