Review article

Pompe disease – a rare glycogen storage disease

Ivan Sonnenschein orcid.org/0000-0001-9793-136X ; Klinika za neurologiju, KBC Rijeka, Rijeka
Mira Bučuk ; Klinika za neurologiju, KBC Rijeka, Rijeka
Petra Pongrac ; Medicinski fakultet Sveučilišta u Rijeci, Rijeka
Zoran Tomić ; Klinika za neurologiju, KBC Rijeka, Rijeka

Abstract

Pompe disease (PD, autosomal recessive disorder) is caused by deficient activity of lysosomal alfa glucosidase enzyme (releases glucose from glycogen). A complete deficit in infants (early onset PD) leads to a severe clinical presentation with extreme muscle weakness, hypertrophic cardiomyopathy, hepatomegaly and macroglossia. Partial deficiency in children, adolescent and adults (later onset PD), leads to less prominent muscle weakness (mostly legs) and cardiomyopathy is rare, but respiratory problems due to diaphragmatic and respiratory muscle weakness are often. In 2006, the European and US authorities (EMEA and FDA) approved the application of enzyme replacement therapy for early and late onset PD.

Keywords

enzyme replacement therapy; glycogenoses; Pompe disease

Hrčak ID:

121872

URI

https://hrcak.srce.hr/121872

Publication date:

2.6.2014.

Article data in other languages: croatian

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