Electrocardiographic response to enzyme replacement therapy for Pompe disease
نویسندگان
چکیده
منابع مشابه
A 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 کاملEnzyme 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 کاملAdjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
Effective dosages for enzyme replacement therapy (ERT) in Pompe disease are much higher than for other lysosomal storage disorders, which has been attributed to low cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle. We have previously demonstrated the benefit of increased CI-MPR-mediated uptake of recombinant human acid-α-glucosidase during ERT in mice with Pompe disea...
متن کاملEnzyme replacement therapy and antibodies in late-onset Pompe disease
http://dx.doi.org/10.1016/j.ymgmr.2014.01.001 2214-4269/© 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND licen (http://creativecommons.org/licenses/by-nc-nd/3.0/). Patients with late-onset Pompe disease receiving enzyme replacement therapy (ERT) usually develop IgG antibodies against algucosidase alpha (anti-rhGAA) within the first 3 months. Th...
متن کاملImmune modulation in Pompe disease treated with enzyme replacement therapy.
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...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2006
ISSN: 1098-3600,1530-0366
DOI: 10.1097/01.gim.0000195896.04069.5f