Journal article
Screening patients referred to a metabolic clinic for lysosomal storage disorders
M Fuller, JN Tucker, DL Lang, CJ Dean, MJ Fietz, PJ Meikle, JJ Hopwood
Journal of Medical Genetics | B M J PUBLISHING GROUP | Published : 2011
Abstract
Background: Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). Design: 1415 blood spots from patients referred to a metabolic clinic for LSD were screened using a single multiplex assay for 14 proteins in a dried blood spot. Results All patients with Pompe disease, metachromatic leukodystrophy, and mucopolysaccharidosis (MPS) type I, IIIA, IIIB and VI were identified by reduced lysosomal protein. Five samples were identified as possible pseudoarylsulfatase A deficiency; four were confirmed. One multiple sulfatase deficiency patient was identified with multiple reduced sulfatase proteins. There were 10 MPS II..
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Funding Acknowledgements
The authors would like to than Janina Pacyna and Alison Whittle for technical assistance as well as Ed Wraith and Eugene Mengel for the provision of blood spots from affected patients. The authors also wish to acknowledge the NHMRC of Australia for funding.