A wide spectrum of Pompe disease exists ranging from the infantile form to a milder juvenile or adult form. The clinical heterogeneity primarily relates to the occurrence of different mutations that lead to a different rate of lysosomal glycogen accumulation and non-genetic factors that are thought to modulate the disease phenotypes. To date, almost 300 distinct GAA mutations have been identifi...

A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study. It has been suggested that the occurrence of pulmonary arterial hypertension in type-Ia glycogen-storage disease could be due to an abnormal production of vasoconstrictive amines such as serot...

Correspondence to: Dr Perry Elliott, The Heart Hospital, 16–18 Westmoreland Street, London, W1G 8PH, UK; [email protected] __________________________ L ysosomal storage disorders (LSD) comprise a group of more than 40 diseases caused by a deficiency of lysosomal enzymes, membrane transporters or other proteins involved in lysosomal biology. The predominant inheritance pattern is autosomal...

Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that is typically fatal by 1 to 2 years of age to a slower progressive course that causes significant morbidity and early mortality in children and a...

The onset of the adult form of Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a slow progressive muscular disorder in which little correlation exists between respiratory function and locomotor function [1]. The greater degree of respiratory dysfunction, compared with mobility loss, is mainly ascribable to the predominant and progressive involvement ...

To investigate purine catabolism in exercising muscles of patients with muscle glycogen storage disease, we performed ischemic forearm exercise tests and quantitated metabolites appearing in cubital venous blood. Two patients with glycogen storage disease type V and three with glycogen storage disease type VII participated in this study. Basal lactate concentrations lowered in every patient wit...

M onitoring of pulmonary function and timely initiation of noninvasive ventilation should be a focus in supportive care for patients with muscular disorders. In the current issue of the European Respiratory Journal, PELLEGRINI et al. [1] focus on this aspect in patients with lateonset Pompe disease (glycogenosis type II, acid maltase deficiency) [1]. In Pompe disease, correct monitoring of pulm...