how to cite this article: ashrafi mr, tavasoli ar. infantile-onset pompe disease. iran j child neurol autumn 2012; 6:4(suppl. 1):7-9. pls see pdf.   refe r ences: 1. kishnani ps, steiner rd. pompe disease diagnosis and management guidelines. american j med genetic. 2006 .vol; 8; no5. 2. case se, beckemyer aa. infantile pompe disease on ert-updateonclinicalpresentation,musculoskeletal management...

Introduction Enzyme-replacement therapy (ERT) with alglucosidase alfa has improved the lifespan of patients with classic infantile Pompe disease, although ERT is not effective in a subset of patients who mount an immune response to the exogenous enzyme. We studied the development of antibodies in response to ERT and its effect on clinical outcomes in 11 patients with classic infantile Pompe dis...

OBJECTIVE To describe the first case of infantile Pompe disease to be treated in Brazil. DESCRIPTION Pompe disease is a glycogen storage disease related to defects in the acid alpha-glucosidase enzyme, leading to an intracellular accumulation of glycogen, mainly in muscles. Two forms are described: infantile and juvenile. Since 2006, treatment with recombinant human acid alpha-glucosidase has...

Pompe disease is an autosomal recessive disorder and is caused by a deficiency in acid alpha-glucosidase (GAA). A broad range of studies have been performed on Pompe patients from different countries. However, the clinical course and molecular basis of the disease in Mainland China have not been well defined. In the present study, we examined a total of 18 Chinese children with infantile-onset ...

OBJECTIVE We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients. METHOD Case - review study of patients diagnosed with infantile Pompe disease and literature search. RESULTS We identified five cases of infantile Pompe disease. The first was diagnosed by muscle biopsy; all o...

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. ...

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...

Pompe disease (acid maltase deficiency, glycogen storage disease type II) is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid alpha-glucosidase. Historically, infantile-onset Pompe disease presents with cardiomegaly, hepatomegaly, weakness and hypotonia leading to death caused by cardiorespiratory failure in the first year of life. Enzyme replac...

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 (glycogen storage disease type II, glycogenosis II, or acid maltase defi ciency) is a lysosomal storage disorder in which an alpha-glucosidase (GAA) defi ciency causes intralysosomal accumulation of glycogen in all tissues, notably skeletal muscles. Pompe disease is transmitted as an autosomal recessive trait and is caused by mutations in the gene encoding the GAA, located on chro...