title: Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy.
abstract: No effective treatment for McArdle disease exists.We report a Japanese patient with McArdle disease who was treated with vitamin B(6) supplementation (60-90 mg/day). After treatment, increased muscle phosphorylase activity was confirmed by follow-up muscle biopsy (3.8 times higher than pretreatment levels). Increased lactate levels were seen on the forearm exercise test, and regular work activities could be resumed. Vitamin B(6) supplementation can enhance residual phosphorylase activity and improve insufficient anaerobic glycolysis of skeletal muscle.
authors.affiliation: Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan. sato_s@neuro.med.kyusha-u.ac.jp
authors.forename: Shinya
authors.initials: S
authors.lastname: Sato
authors.forename: Takekazu
authors.initials: T
authors.lastname: Ohi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
mesh_terms: D000328:Adult; D001706:Biopsy; D019587:Dietary Supplements; D005081:Exercise Therapy; D005500:Follow-Up Studies; D006012:Glycogen Storage Disease Type V / Q000178:diet therapy* / Q000473:pathology* / Q000534:rehabilitation; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000187:drug effects* / Q000473:pathology*; D010205:Pantothenic Acid / Q000008:administration & dosage / Q000494:pharmacology*; D006005:Phosphorylases / Q000378:metabolism; D014803:Vitamin B Complex / Q000494:pharmacology*
chemical_list: D014803:Vitamin B Complex; D010205:Pantothenic Acid; D006005:Phosphorylases