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Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.
Acta Neurol Belg 2006; 106(2):82-6AN

Abstract

Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a continuous spectrum but for clinical practice different subtypes are recognized. The classic infantile form of the disease occurs in infants (shortly after birth) and is characterized by generalized hypotonia, failure to thrive, and cardiorespiratory failure. Patients usually die within the first year of life. The non-classic or late-onset form of the disease may occur at any age in childhood or adulthood. It presents predominantly as a slowly progressive proximal myopathy, with or without respiratory failure. Enzyme replacement therapy (ERT) is under study as treatment for the disease. The first results with recombinant human alpha-glucosidase are promising and a registered therapy seems near. Beneficial effects of ERT have been reported both in patients with the classic infantile form as well as in patients with the non-classic or late-onset form of the disease. The best therapeutic results are achieved when ERT is started early in the course of symptom development and before irreversible muscular damage has occurred. Detailed knowledge about the natural course of the disease becomes more and more essential to determine the indication and timing of treatment.

Authors+Show Affiliations

Department of Neurology, Erasmus MC, Rotterdam, The Netherlands. n.beek@erasmusmc.nlNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16898258

Citation

van der Beek, N A M E., et al. "Pompe Disease (glycogen Storage Disease Type II): Clinical Features and Enzyme Replacement Therapy." Acta Neurologica Belgica, vol. 106, no. 2, 2006, pp. 82-6.
van der Beek NA, Hagemans ML, van der Ploeg AT, et al. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol Belg. 2006;106(2):82-6.
van der Beek, N. A., Hagemans, M. L., van der Ploeg, A. T., Reuser, A. J., & van Doorn, P. A. (2006). Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurologica Belgica, 106(2), pp. 82-6.
van der Beek NA, et al. Pompe Disease (glycogen Storage Disease Type II): Clinical Features and Enzyme Replacement Therapy. Acta Neurol Belg. 2006;106(2):82-6. PubMed PMID: 16898258.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. AU - van der Beek,N A M E, AU - Hagemans,M L C, AU - van der Ploeg,A T, AU - Reuser,A J J, AU - van Doorn,P A, PY - 2006/8/11/pubmed PY - 2006/10/13/medline PY - 2006/8/11/entrez SP - 82 EP - 6 JF - Acta neurologica Belgica JO - Acta Neurol Belg VL - 106 IS - 2 N2 - Pompe disease (glycogen storage disease type II, acid maltase deficiency) is a progressive metabolic myopathy caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. This leads to an accumulation of glycogen in various tissues of the body, most notably in skeletal muscle. The disease has an autosomal recessive inheritance with a predicted frequency of 1 :40.000. Pompe disease is a continuous spectrum but for clinical practice different subtypes are recognized. The classic infantile form of the disease occurs in infants (shortly after birth) and is characterized by generalized hypotonia, failure to thrive, and cardiorespiratory failure. Patients usually die within the first year of life. The non-classic or late-onset form of the disease may occur at any age in childhood or adulthood. It presents predominantly as a slowly progressive proximal myopathy, with or without respiratory failure. Enzyme replacement therapy (ERT) is under study as treatment for the disease. The first results with recombinant human alpha-glucosidase are promising and a registered therapy seems near. Beneficial effects of ERT have been reported both in patients with the classic infantile form as well as in patients with the non-classic or late-onset form of the disease. The best therapeutic results are achieved when ERT is started early in the course of symptom development and before irreversible muscular damage has occurred. Detailed knowledge about the natural course of the disease becomes more and more essential to determine the indication and timing of treatment. SN - 0300-9009 UR - https://www.unboundmedicine.com/medline/citation/16898258/Pompe_disease__glycogen_storage_disease_type_II_:_clinical_features_and_enzyme_replacement_therapy_ L2 - http://www.diseaseinfosearch.org/result/3116 DB - PRIME DP - Unbound Medicine ER -