[Myopathy in adults caused by acid maltase deficiency. A trial of treatment with high protein diet].
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.
Ferrer
X
X
Service de Neurologie, Hôpital du Haut Lévêque, Pessac.
Coquet
M
M
Saintarailles
J
J
Ellie
E
E
Deleplanque
B
B
Desnuelle
C
C
Levade
T
T
Lagueny
A
A
Julien
J
J
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
D004044:Dietary Proteins; D003402:Creatine Kinase; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase
Myopathie de l'adulte par déficit en maltase acide. Essai de traitement par régime hyperprotidique.