Enzyme replacement therapy (ERT) with alglucosidase alfa has improved clinical outcomes and prolonged survival for patients with infantile Pompe disease (IPD). However, patients characterised as Cross-Reactive Immunological Material (CRIM)negative (CN) mount an immune response against ERT resulting in clinical decline and, ultimately, death. A prophylactic immune tolerance induction (ITI) proto...

Pompe disease is a progressive multisystem disease caused by a lysosomal acid α-glycosidase enzyme (GAA) defi ciency, resulting in lysosomal accumulation of glycogen. The late-onset form is characterized by progressive skeletal and respiratory muscle dysfunction leading to functional disability and impairment of quality of life. Enzyme replacement therapy (ERT) and treatments, such as protein-e...

clinical spectrum of late-onset Pompe disease (LOPD) have been extensively reviewed, with the identifi cation of a continuum, ranging from severe childhood cases to very late overt manifestations, occurring in the sixth or even seventh decade. Some of these patients may complain of non-specifi c symptoms and signs (hyperCKemia, myalgia, fatigability) for years; therefore they may be misdiagnose...

how to cite this article: nilipour y. lysosomal myopathies. iran j child neurol autumn 2012; 6:4 (suppl. 1):11. pls see pdf.

Adult Pompe disease/acid maltase deficiency is an autosomal recessive disorder resulting in accumulation of glycogen in skeletal muscles, leading to myopathy frequently involving respiratory muscles. This involvement can cause respiratory insufficiency that may present as acute hypercapnic respiratory failure. Enzyme replacement therapy (ERT) with alpha - glucosidase alfa, the only disease-spec...

Pompe disease is an autosomal recessive disorder characterized by acid alpha-glucosidase (GAA) defi ciency that results in intralysosomal glycogen accumulation affecting skeletal muscles with more specifi c impairment of proximal limb, trunk, and respiratory muscles. Pulmonary symptoms may represent one of the initial manifestations of late-onset Pompe disease (LOPD) in patients, even those sti...

We herein report a novel compound heterozygous mutation of the acid α-glucosidase (GAA) gene in a 23-year-old man with adult-onset Pompe disease. The patient was admitted for respiratory failure and a highly elevated serum level of creatine kinase (CK). His muscle pathology did not show typical vacuolated fibers; however, globular inclusion bodies with acid phosphatase (ACP) activity was observ...