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Updated: May 29, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's
Benjamin Bereznai1, Anita Trauninger, Ilona György
1Semmelweis Egyetem, Általános Orvostudományi Kar Neurológiai Klinika, Molekuláris Neurológiai Klinikai és Kutatási Központ, Ritka Betegségek Központja, Budapest. bereznaib@neur.sote.hu
Unlabelled:
Pompe's disease is an autosomal recessive disease caused by deficiency of acid-alpha-glucosidase.
Aims And Methods:
Authors analyzed the phenotype of 11 Hungarian patients with Pompe's disease and evaluated clinical parameters and response to enzyme replacement therapy during a long-term follow-up in 8 patients.
Results:
One patient with atypical infantile form presented with cardiomyopathy and a very slow progression of motor deficits; after 2 years of enzyme replacement therapy no disability was present at the age 6 years. Another patient was asymptomatic at the age of 2.5 years. The adult onset form was characterized by slight to prominent limb-girdle myopathy with an age of onset between 20 and 50 years. In 3 of such cases respiratory insufficiency was also present.
Conclusions:
Hungarian patients with Pompe's disease presented with a wide phenotypic variability ranging from atypical early childhood form with slowly progressive course to late-onset limb-girdle myopathy with variable courses. Enzyme replacement therapy resulted in significant improvement in motor and respiratory functions in most of the patients.
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