Tags

Type your tag names separated by a space and hit enter

Therapeutic advances in the management of Pompe disease and other metabolic myopathies.
Ther Adv Neurol Disord. 2013 Sep; 6(5):311-21.TA

Abstract

The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease and also other pathologies. This article reviews new advances in the treatment of GSDII, the consensus about ERT, and its limitations. In addition, the most recent knowledge regarding the pathophysiology, phenotype, and genotype of the disease is discussed. Pharmacological, immunotherapy, nutritional, and physical/rehabilitative treatments for late-onset Pompe disease and other metabolic myopathies are covered, including treatments for defects in glycogen metabolism, such as glycogenosis type V (McArdle disease), and glycogenosis type III (debrancher enzyme deficiency), and defects in lipid metabolism, such as carnitine palmitoyltransferase II deficiency and electron transferring flavoprotein dehydrogenase deficiency, or riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

Authors+Show Affiliations

IRCCS, San Camillo, Lido, Venice 35100, Italy.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

23997816

Citation

Angelini, Corrado, et al. "Therapeutic Advances in the Management of Pompe Disease and Other Metabolic Myopathies." Therapeutic Advances in Neurological Disorders, vol. 6, no. 5, 2013, pp. 311-21.
Angelini C, Nascimbeni AC, Semplicini C. Therapeutic advances in the management of Pompe disease and other metabolic myopathies. Ther Adv Neurol Disord. 2013;6(5):311-21.
Angelini, C., Nascimbeni, A. C., & Semplicini, C. (2013). Therapeutic advances in the management of Pompe disease and other metabolic myopathies. Therapeutic Advances in Neurological Disorders, 6(5), 311-21. https://doi.org/10.1177/1756285613487570
Angelini C, Nascimbeni AC, Semplicini C. Therapeutic Advances in the Management of Pompe Disease and Other Metabolic Myopathies. Ther Adv Neurol Disord. 2013;6(5):311-21. PubMed PMID: 23997816.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Therapeutic advances in the management of Pompe disease and other metabolic myopathies. AU - Angelini,Corrado, AU - Nascimbeni,Anna Chiara, AU - Semplicini,Claudio, PY - 2013/9/3/entrez PY - 2013/9/3/pubmed PY - 2013/9/3/medline KW - CPT2 deficiency KW - Glycogenosis type II KW - McArdle disease KW - RR-MADD KW - glycogenosis type III SP - 311 EP - 21 JF - Therapeutic advances in neurological disorders JO - Ther Adv Neurol Disord VL - 6 IS - 5 N2 - The world of metabolic myopathies has been dramatically modified by the advent of enzyme replacement therapy (ERT), the first causative treatment for glycogenosis type II (GSDII) or Pompe disease, which has given new impetus to research into that disease and also other pathologies. This article reviews new advances in the treatment of GSDII, the consensus about ERT, and its limitations. In addition, the most recent knowledge regarding the pathophysiology, phenotype, and genotype of the disease is discussed. Pharmacological, immunotherapy, nutritional, and physical/rehabilitative treatments for late-onset Pompe disease and other metabolic myopathies are covered, including treatments for defects in glycogen metabolism, such as glycogenosis type V (McArdle disease), and glycogenosis type III (debrancher enzyme deficiency), and defects in lipid metabolism, such as carnitine palmitoyltransferase II deficiency and electron transferring flavoprotein dehydrogenase deficiency, or riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. SN - 1756-2856 UR - https://www.unboundmedicine.com/medline/citation/23997816/Therapeutic_advances_in_the_management_of_Pompe_disease_and_other_metabolic_myopathies_ L2 - http://journals.sagepub.com/doi/full/10.1177/1756285613487570?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -
Try the Free App:
Prime PubMed app for iOS iPhone iPad
Prime PubMed app for Android
Prime PubMed is provided
free to individuals by:
Unbound Medicine.