Enzyme replacement therapy (ERT) in pompe disease
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy (ERT) in pompe disease
Pompe disease (OMIM 232300) is an AR glycogenosis due to deficiency of the lysosomal enzyme alpha-glucosidase (GAA). As a result, glycogen storage occurs in muscles and patients present a wide clinical spectrum ranging from early onset severe cardiomyopathy (EOPD) to adult onset forms (LOPD). Severe loss of GAA activity correlates with early onset and severe phenotypes. Residual enzyme activity...
متن کاملEffect of enzyme replacement therapy (ERT) added to Home Mechanical Ventilation (HMV) in Adult Pompe disease
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...
متن کاملA New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage. Infantile-onset Pompe disease (IOPD) is the most severe type of this disease and is characterized by severe hypertrophic cardiomyopathy and generalized hypoton...
متن کاملSuccessful twin pregnancy in a 38-year-old woman with Pompe disease despite interruption of enzyme replacement therapy (ERT)
Results After successful insemination of 2 foetuses, ERT was stopped at the patient’s request. Investigations were performed before and during pregnancy until week 30. The Walton/Gardner Medwin Scale was stable during the preceding 2y on ERT and during pregnancy. Echocardiography demonstrated normal left-ventricular function. No changes were observed in creatine kinase (CK) levels, GAA activity...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2014
ISSN: 1824-7288
DOI: 10.1186/1824-7288-40-s1-a64