Diagnosing lysosomal storage disorders: Pompe disease.

Diagnosing lysosomal storage disorders: Pompe disease.
Curr Protoc Hum Genet. 2012 Oct;Chapter 17:Unit17.11
Authors: Bodamer OA, Dajnoki A
Abstract
Pompe disease is a lysosomal storage disorder caused by a deficiency of acid alpha glucosidase (GAA). Diagnosis of Pompe disease is typically based on an enzyme analysis of blood or tissues, such as fibroblasts, followed by confirmation through molecular testing. The advent of fluorometric and mass spectrometry methods for enzyme analysis in dried blood spots (DBS) has simplified the diagnostic approach for Pompe disease, facilitating high-throughput screening of at-risk populations and newborn infants. The following unit will provide the detailed analytical protocol for measurement of GAA activity in DBS using tandem mass spectrometry.
PMID: 23074069 [PubMed - indexed for MEDLINE]

Source: Current Protocols in Human Genetics - November 25, 2014 Category: Genetics & Stem Cells Tags: Curr Protoc Hum Genet Source Type: research