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Neurol Clin. 2014 Aug;32(3):751-76, ix. doi: 10.1016/j.ncl.2014.04.010.

Pompe disease: literature review and case series.

Author information

1
Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA; Department of Genetics, King Faisal Specialist Hospital & Research Center, MBC-03-30, PO Box 3354, Riyadh 11211, Saudi Arabia. Electronic address: mdasouki@kumc.edu.
2
Department of Neurology, University of Kansas Medical Center, Mailstop 2012, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.
3
Department of Pediatrics, University of Kansas Medical Center, Mailstop 4004, 3901 Rainbow Boulevard, Kansas City, KS 66160, USA.

Abstract

Pompe disease is a rare multi-systemic metabolic myopathy caused by autosomal recessive mutations in the acidic alpha glucosidase (GAA) gene. Significant progress had been made in the diagnosis and management of patients with Pompe disease. Here, we describe our experience with 12 patients with various forms of Pompe disease including 4 potentially pathogenic, novel GAA variants. We also review the recent the recent advances in the pathogenesis, diagnosis, and treatment of individuals with Pompe disease.

KEYWORDS:

Autosomal recessive; Enzyme replacement therapy; Hypotonia; Lysosomal glycogen storage disease; Metabolic myopathy; Newborn screening

PMID:
25037089
PMCID:
PMC4311397
DOI:
10.1016/j.ncl.2014.04.010
[Indexed for MEDLINE]
Free PMC Article

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