pompe disease, also termed glycogen storage disease type ii or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (gaa), the glycogen degrading lysosomal enzyme. as a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. in pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

BACKGROUND/AIMS Pompe disease is a rare metabolic disorder caused by deficiency of the lysosomal enzyme acid alpha-glycosidase (GAA). The late onset form of the disease is characterized by muscle weakness and respiratory involvement of variable severity. The aim of this short communication is to highlight the clinical variability of Pompe disease within siblings suffering from the disease. CA...

Pompe disease is a lysosomal storage disease characterized by massive glycogen deposition in skeletal, cardiac and smooth muscle secondary to the deficiency of acid α-glucosidase (GAA) [1]. Once rapidly fatal, it has become a treatable condition since the development of enzyme replacement therapy (ERT) with alglucosidase α (recombinant human GAA [rhGAA], Myozyme/Lumizyme Genzyme Corp. Cambridge...

Since the introduction of enzyme replacement therapy for Pompe disease, awareness and early diagnosis have gained importance. Because the therapy is most effective when started early and methods for dried bloodspot screening for Pompe disease are currently being explored, neonatal screening is getting increased attention. The objective of this study was to investigate the gains that might be ac...

Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that could benefit from presymptomatic treatment, thereby reducing associated morbidity and mortality. With advances in technology, the number of disorders included in NBS programs increased. Pompe disease is a good c...

Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe dise...

Rationale: Infantile-onset Pompe disease, also known as glycogen storage disease type II, is a progressive and fatal disorder without treatment. Enzyme replacement therapy with recombinant human acid alpha-glucosidase (GAA) enhances survival; however, the best outcomes have been achieved with early treatment. Patient concerns:We report a case of a newborn with infantile-onset Pompe disease diag...

Pompe disease, a rare autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase, results in lysosomal accumulation of glycogen in multiple tissues, primarily affecting muscles. Infantileonset Pompe disease is characterised by generalised muscle weakness, hypotonia and lethal cardiomyopathy, resulting in death within the first year of life. The advent of enzyme replacement th...

Pompe disease is an autosomal recessive inherited metabolic disease caused by deficiency of acid α-glucosidase (GAA). Glycogen accumulation is seen in the affected organ such as skeletal muscle, heart, and liver. Hypertrophic cardiomyopathy is frequently seen in the infantile onset Pompe disease. On the other hand, cardiovascular complication of the late-onset Pompe disease is considered as les...

BACKGROUND Pompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study diaphragmatic ...