Journal article

Determination of acid alpha-glucosidase protein: Evaluation as a screening marker for pompe disease and other lysosomal storage disorders

K Umapathysivam, AM Whittle, E Ranieri, C Bindloss, EM Ravenscroft, OP van Diggelen, JJ Hopwood, PJ Meikle

Clinical Chemistry | AMER ASSOC CLINICAL CHEMISTRY | Published : 2000


BACKGROUND: In recent years, there have been significant advances in the development of enzyme replacement and other therapies for lysosomal storage disorders (LSDs). Early diagnosis, before the onset of irreversible pathology, has been demonstrated to be critical for maximum efficacy of current and proposed therapies. In the absence of a family history, the presymptomatic detection of these disorders ideally can be achieved through a newborn screening program. One approach to the development of such a program is the identification of suitable screening markers. In this study, the acid alpha-glucosidase protein was evaluated as a marker protein for Pompe disease and potentially for other LSD..

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University of Melbourne Researchers