Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replac...

Background: Cutoff activities for diagnosing disaccharidase deficiencies are historical and are difficult to verify from a reference population. The objectives of this study were to validate the utility of historical disaccharidase cutoffs using data from clinical samples and to evaluate the demographics of individuals for whom intestinal disaccharidase testing was performed. Methods: Results f...

PEARLS Adult-onset Pompe disease (acid maltase deficiency, glycogen storage disease type II) should be considered in the differential diagnosis in the adult patient presenting with slowly progressive selective lower extremity weakness, specifically of the hip flexors. Hip flexion weakness may be the only finding in the earliest stages of this disease. EMG findings of myotonic discharges occurri...

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...

By sequence analysis in ten quails with acid maltase deficiency (AMD), we have identified the mutation in qgaa1 gene, but not in qgaa2 gene. No mutations were detected in either gaa gene in ten normal quails. AMD quails had a novel G deletion at nucleotide position 1639 in exon 7 in qgaa1 gene (designated 1639delG). This deletion causes a frameshift altering the amino acid sequence from positio...

Trehalose is a disaccharide, the main dietary source being mushrooms. It has been approved as an additive in the preparation of dried food. Isolated intestinal trehalase deficiency is found in 8% of Greenlanders, but is rare elsewhere. The normal range of trehalase activity and the incidence of isolated trehalase deficiency in the UK have not been reported. Patients (n 400) were investigated fo...