Clinical Analysis of Algerian Patients with Pompe Disease. (6th February 2017)

• Record Type: Journal Article
• Authors: Sifi, Y.; Medjroubi, M.; Froissart, R.; Taghane, N.; Sifi, K.; Benhabiles, A.; Lemai, S.; Semra, S.; Benmekhebi, H.; Bouderda, Z.; Abadi, N.; Hamri, A.
• Other Names: Spencer Brian Academic Editor.
• Is Part Of: Journal of neurodegenerative diseases. Volume 2017(2017)
• Publication Date: 2017-02-06
• Subjects: Nervous system -- Degeneration -- Periodicals; Neurodegenerative Diseases; Nervous system -- Degeneration; Periodicals; 616.8
• DOI: 10.1155/2017/9427269
• Languages: English
• ISSNs: 2090-858X

Abstract

Abstract : Pompe's disease is a metabolic myopathy caused by a deficiency of acid alpha-glucosidase (GAA), also called acid maltase, an enzyme that degrades lysosomal glycogen. The clinical presentation of Pompe's disease is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy (infantile-onset Pompe disease (IOPD)) typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of them die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of Pompe's disease, onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life (late-onset Pompe's disease or LOPD). Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure. The objective of this study was to characterize the clinical presentation of 6 patients (3 with EOPD and the other 3 with LOPD) of 5 families from the East of Algeria. All our patients were diagnosed as having Pompe's disease based on biochemical confirmations of GAA deficiency by dried blood spots (DBS) and GAA gene mutations were analyzed in all patients who consented (n = 4 ). Our results are similar to other ethnic groups.