title: Clinical Analysis of Algerian Patients with Pompe Disease.
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.
authors.affiliation: Service de Neurologie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria; Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: Y
authors.identifier: 0000-0001-9742-2522
authors.initials: Y
authors.lastname: Sifi
authors.affiliation: Service de Pédiatrie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: M
authors.initials: M
authors.lastname: Medjroubi
authors.affiliation: Laboratoire des Maladies Héréditaires du Métabolisme, Biochimie et Biologie Moléculaire, Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France.
authors.forename: R
authors.initials: R
authors.lastname: Froissart
authors.affiliation: Service de Neurologie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria; Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: N
authors.initials: N
authors.lastname: Taghane
authors.affiliation: Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria; Laboratoire de Biochimie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: K
authors.initials: K
authors.lastname: Sifi
authors.affiliation: Service de Chirurgie Orthopédique, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: A
authors.initials: A
authors.lastname: Benhabiles
authors.affiliation: Service Médecine Physique et Réadaptation Fonctionnelle, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: S
authors.initials: S
authors.lastname: Lemai
authors.affiliation: Service de Réanimation Médicale, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: S
authors.initials: S
authors.lastname: Semra
authors.affiliation: Service de Pédiatrie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: H
authors.initials: H
authors.lastname: Benmekhebi
authors.affiliation: Service de Pédiatrie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: Z
authors.initials: Z
authors.lastname: Bouderda
authors.affiliation: Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria; Laboratoire de Biochimie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: N
authors.initials: N
authors.lastname: Abadi
authors.affiliation: Service de Neurologie, Faculté de Médecine, Université Constantine 3, Constantine, Algeria; Laboratoire de Biologie et de Génétique Moléculaire, Faculté de Médecine, Université Constantine 3, Constantine, Algeria.
authors.forename: A
authors.initials: A
authors.lastname: Hamri