Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy

Muscle & Nerve
Shinya SatoHideo Sugie

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.

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Citations

Jul 17, 2014·Sports Medicine·Alfredo SantallaAlejandro Lucia
Dec 7, 2013·Continuum : Lifelong Learning in Neurology·Alejandro Tobon
Apr 29, 2015·Human Mutation·Gisela Nogales-GadeaTomàs Pinós
Jul 6, 2014·Biochimica Et Biophysica Acta·Corrado Angelini
Jul 24, 2014·Journal of Inherited Metabolic Disease·Gisela Nogales-GadeaTomàs Pinós
Dec 7, 2016·Continuum : Lifelong Learning in Neurology·Mark A Tarnopolsky
Sep 3, 2013·Therapeutic Advances in Neurological Disorders·Corrado AngeliniClaudio Semplicini
Feb 3, 2018·BMJ Case Reports·Helena PintoRui Alves
Sep 3, 2013·Current Opinion in Neurology·Anders Oldfors, Salvatore DiMauro
May 8, 2018·Glycoconjugate Journal·Yuta FujiiMasaaki Sato
Oct 16, 2015·Physiological Genomics·Gisela Nogales-GadeaAlejandro Lucia
Sep 22, 2017·Current Treatment Options in Neurology·Mette Cathrine Ørngreen, John Vissing
Nov 7, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Mark A Tarnopolsky
Dec 23, 2020·International Journal of Molecular Sciences·Aitana Almodóvar-PayáTomàs Pinós

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