Related Experiment Video
Updated: Aug 18, 2026
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Fabry disease--a diagnostic and therapeutic challenge]
Gunnar Houge1, Alv Johan Skarbøvik
1Kompetansesenteret for Fabry sykdom, Senter for medisinsk genetikk og molekylaermedisin, Haukeland Universitetssjukehus, 5021 Bergen. gunnar.houge@helse-bergen.no
Background:
Fabry disease, unlike most other metabolic diseases, is prone to familiar and regional clustering because of X-linked inheritance and normal fertility in affected men. Affected individuals can be offered intravenous enzyme replacement therapy.
Materials And Methods:
In two counties in western Norway there are 41 affected individuals, giving a minimum prevalence of the disease of 1 in 17,000. The patient material is briefly presented. We discuss some of the administrative and financial challenges that this type of diseases present in our public health system.
Results And Interpretation:
The great variability in disease expression and severity within and between families delays the diagnosis and necessitates a broad clinical follow up of affected persons. A false diagnosis is often made (e.g. MS, irritable colon, a psychiatric disorder, idiopathic hypertrophic cardiomyopathy, or kidney failure). The follow up regime is briefly described, with special emphasis on the practical and financial implications of enzyme replacement therapy in Norway.
