title: [Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet].
abstract: A 21-year old women with rhizomelic muscular deficit and signs of hypercapnia developed acute respiratory failure. Laboratory tests revealed high creatine kinase activity, and electromyograms showed myogenic patterns with a few myotonic discharges. Biopsy of the quadriceps muscle elicited major vacuolar myopathy with glycogen overload. Acid maltase activity was undetectable in muscular tissue. After 7 months on high-protein diet (1540 calories, 37% proteins) there was no clinical or biochemical improvement. The other published cases of acid maltase deficiency treated with high-protein diet are discussed.
authors.affiliation: Service de Neurologie, Hôpital du Haut Lévêque, Pessac.
authors.forename: X
authors.initials: X
authors.lastname: Ferrer
authors.forename: M
authors.initials: M
authors.lastname: Coquet
authors.forename: J
authors.initials: J
authors.lastname: Saintarailles
authors.forename: E
authors.initials: E
authors.lastname: Ellie
authors.forename: B
authors.initials: B
authors.lastname: Deleplanque
authors.forename: C
authors.initials: C
authors.lastname: Desnuelle
authors.forename: T
authors.initials: T
authors.lastname: Levade
authors.forename: A
authors.initials: A
authors.lastname: Lagueny
authors.forename: J
authors.initials: J
authors.lastname: Julien
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004044:Dietary Proteins / Q000627:therapeutic use; D004576:Electromyography; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis; D006801:Humans; D009135:Muscular Diseases / Q000178:diet therapy / Q000209:etiology* / Q000473:pathology; D012131:Respiratory Insufficiency / Q000209:etiology; D000520:alpha-Glucosidases
chemical_list: D004044:Dietary Proteins; D003402:Creatine Kinase; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase
vernacular_title: Myopathie de l'adulte par déficit en maltase acide. Essai de traitement par régime hyperprotidique.