These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different experts. These guidelines were produced by...

changes could explain the high prevalence of obstructive sleep apnea in Pompe patients (Margolis et al., 1994). To conclude, Lee et al.’s (2011) observations raise the ante considerably concerning the pathophysiology and treatment of Pompe disease. The evidence points to “double-trouble” for respiration. Not alone is there impairment in the physiological function of the effector organs of the c...

We have used a peptide-based targeting system to improve lysosomal delivery of acid α-glucosidase (GAA), the enzyme deficient in patients with Pompe disease. Human GAA was fused to the glycosylation-independent lysosomal targeting (GILT) tag, which contains a portion of insulin-like growth factor II, to create an active, chimeric enzyme with high affinity for the cation-independent mannose 6-ph...

Adult-onset acid maltase deficiency may simulate limb-girdle dystrophy and the heart may represent a rare finding. Nevertheless, the cardiac phenotype of adults with GDSII is poorly characterized, so far. Descriptions of heart abnormalities in adults with Pompe disease are sparse. Recently, a relatively large cohort of adults (87 patients, median age 44 years old, 51% males) with Pompe disease ...

Pompe disease is caused by autosomal recessive mutations in the acid alpha-glucosidase (GAA) gene, which encodes GAA. Although enzyme replacement therapy has recently improved patient survival greatly, the results in skeletal muscles and for advanced disease are still not satisfactory. Here, we report the derivation of Pompe disease-induced pluripotent stem cells (PomD-iPSCs) from two patients ...

Pompe disease (glycogen storage disease type II) is an autosomal recessive neuromuscular disorder arising from a deficiency of lysosomal acid α-glucosidase (GAA). Accumulation of autophagosomes is a key pathological change in skeletal muscle fibers and fibroblasts from patients with Pompe disease and is implicated in the poor response to enzyme replacement therapy (ERT). We previously found tha...

Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations. It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which a therapy (enzyme replacement) has been approved. As GAA is the only enzyme that hydrolyses glycogen to glucose in the acidic environment of ...

We aim to create an information platform by contributing orodental findings of Pompe disease to literature. An 18-month-old male patient with Pompe disease was referred to our clinic due to swelling of the gums. In first dental examination, a nonfluctuant, normal gingiva colored swelling at the right anterior region of maxilla was detected. His parents were recommended to perform finger massage...

Pompe or Glycogen Storage Disease type II (GSD-II) is a genetic disorder affecting both cardiac and skeletal muscle. Historically, patients with the infantile form usually die within the first year of life due to cardiac and respiratory failure. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anesthesia for these patients. ...