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Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy.
J Clin Neuromuscul Dis 2008; 9(4):421-31JC

Abstract

Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes for alpha-glucosidase. Presentation in infancy is associated with respiratory failure, cardiomyopathy, and severe muscle weakness. Juvenile- or adult-onset cases typically present with proximal muscle weakness and are associated with respiratory insufficiency or exertional dyspnea. Treatment, until recently, was focused on supportive measures, and infants diagnosed with Pompe disease usually died within the first year of life. The recent development of recombinant alpha-glucosidase has dramatically improved the life expectancy and quality of life of infantile-onset disease with improvements in respiratory and motor function observed in juvenile- or adult-onset cases. This review focuses on the presentation, pathogenesis, diagnosis, and treatment recommendations for Pompe disease in this new era of enzyme replacement therapy.

Authors+Show Affiliations

Department of Neurology, University of South Florida, Tampa, FL 33606, USA. lkatzin@hsc.usf.eduNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

18525427

Citation

Katzin, Lara W., and Anthony A. Amato. "Pompe Disease: a Review of the Current Diagnosis and Treatment Recommendations in the Era of Enzyme Replacement Therapy." Journal of Clinical Neuromuscular Disease, vol. 9, no. 4, 2008, pp. 421-31.
Katzin LW, Amato AA. Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. J Clin Neuromuscul Dis. 2008;9(4):421-31.
Katzin, L. W., & Amato, A. A. (2008). Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. Journal of Clinical Neuromuscular Disease, 9(4), pp. 421-31. doi:10.1097/CND.0b013e318176dbe4.
Katzin LW, Amato AA. Pompe Disease: a Review of the Current Diagnosis and Treatment Recommendations in the Era of Enzyme Replacement Therapy. J Clin Neuromuscul Dis. 2008;9(4):421-31. PubMed PMID: 18525427.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pompe disease: a review of the current diagnosis and treatment recommendations in the era of enzyme replacement therapy. AU - Katzin,Lara W, AU - Amato,Anthony A, PY - 2008/6/6/pubmed PY - 2008/8/30/medline PY - 2008/6/6/entrez SP - 421 EP - 31 JF - Journal of clinical neuromuscular disease JO - J Clin Neuromuscul Dis VL - 9 IS - 4 N2 - Pompe disease, or glycogen storage disease type II, is a rare autosomal recessive disorder caused by mutations in the gene that encodes for alpha-glucosidase. Presentation in infancy is associated with respiratory failure, cardiomyopathy, and severe muscle weakness. Juvenile- or adult-onset cases typically present with proximal muscle weakness and are associated with respiratory insufficiency or exertional dyspnea. Treatment, until recently, was focused on supportive measures, and infants diagnosed with Pompe disease usually died within the first year of life. The recent development of recombinant alpha-glucosidase has dramatically improved the life expectancy and quality of life of infantile-onset disease with improvements in respiratory and motor function observed in juvenile- or adult-onset cases. This review focuses on the presentation, pathogenesis, diagnosis, and treatment recommendations for Pompe disease in this new era of enzyme replacement therapy. SN - 1537-1611 UR - https://www.unboundmedicine.com/medline/citation/18525427/Pompe_disease:_a_review_of_the_current_diagnosis_and_treatment_recommendations_in_the_era_of_enzyme_replacement_therapy_ L2 - http://dx.doi.org/10.1097/CND.0b013e318176dbe4 DB - PRIME DP - Unbound Medicine ER -