[Therapeutic trials for the patients with muscle glycogen storage diseases].
Muscle glycogen storage diseases (GSDs) are disorders of inborn error of metabolism, in which gene therapy restoring the deficient enzymes may ultimately cure the diseases. However, considering the pathophysiological basis of GSDs other treatments such as substrate supplementation, activation of the residual enzyme and enzyme replacement, are also important. Therapeutic trials in progress include the combined use of vitamin B6 and cornstarch for GSD type V, enzyme replacement therapy using rh-alpha-glucosidase for GSD type II, and ketogenic diet for GSD type IX.
Sugie
Hideo
H
Department of Pediatrics (Pediatric Neurology), Hamamatsu City Medical Center for Developmental Medicine, Hamakita, Shizuoka. h-sugie@umin.ac.jp
D002986:Clinical Trials as Topic; D004040:Dietary Carbohydrates / Q000008:administration & dosage; D004041:Dietary Fats / Q000008:administration & dosage; D015316:Genetic Therapy; D006008:Glycogen Storage Disease / Q000145:classification / Q000503:physiopathology / Q000628:therapy*; D006801:Humans; D013213:Starch / Q000627:therapeutic use; D025101:Vitamin B 6 / Q000627:therapeutic use; D000520:alpha-Glucosidases / Q000008:administration & dosage
D004040:Dietary Carbohydrates; D004041:Dietary Fats; D025101:Vitamin B 6; D013213:Starch; D000520:alpha-Glucosidases