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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Clinical guidelines for late-onset Pompe disease.

M A Barba-Romero¹, E Barrot, J Bautista-Lorite

¹Department of Internal Medicine, Hospital General Universitario de Albacete, Spain.

Revista De Neurologia

|April 12, 2012

Summary

Enzyme replacement therapy is the first specific treatment for late-onset Pompe disease, improving motor and respiratory function. Early diagnosis using dried blood spots and confirmation via enzyme activity or gene analysis are crucial for effective management.

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Area of Science:

Neurology
Genetics
Metabolic Disorders

Background:

Pompe disease (glycogenosis storage disease type II) was previously incurable with only palliative care.
The advent of recombinant human alpha-glucosidase enzymatic replacement therapy (ERT) marked a significant advancement.
Late-onset Pompe disease (LOPD) develops after one year of age and requires specific management strategies.

Purpose of the Study:

To provide a reference guide for the diagnosis, follow-up, and treatment of LOPD.
To outline expert recommendations from Spanish specialists.
To emphasize the importance of early and accurate diagnosis and timely ERT initiation.

Main Methods:

Dried blood spots (DBS) method for initial diagnosis screening.
Enzymatic activity study in isolated lymphocytes for diagnostic confirmation.
Alpha-glucosidase gene mutation analysis for definitive diagnosis.

Main Results:

ERT is effective in improving or stabilizing motor function in LOPD patients.
ERT demonstrates efficacy in improving respiratory function.
Expert recommendations emphasize initiating ERT at the onset of LOPD symptoms.

Conclusions:

The guide provides essential recommendations for managing LOPD based on expert consensus.
Early diagnosis through DBS and confirmation via enzyme or genetic testing is critical.
Timely initiation of ERT is key to improving patient outcomes in LOPD.