Genetics of Glycogen-Storage Disease Type V Medication

  • Author: Edward J Cupler, MD, FAAN; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Aug 19, 2011
 

Medication Summary

In general, no specific treatment is indicated for McArdle disease (glycogen-storage disease type V). Vitamins such as vitamin B-6 (pyridoxine) may be beneficial to correct depleted body stores and augment myophosphorylase activity. Sucrose may improve exercise tolerance. Creatine may improve ATP capacity and exercise tolerability.

Other treatments, such as d-ribose, glucagon, verapamil, and dantrolene, have not been shown to be effective. Branched-chain amino acids were shown to worsen functional activity and exercise capacity.

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Vitamins

Class Summary

These agents are necessary to promote regular growth and good health. Some studies suggest that pyridoxine may reduce the susceptibility of muscles to fatigue in patients with McArdle disease. Normally, myophosphorylase uses pyridoxal 5'-phosphate (derived from vitamin B-6) as a cofactor; therefore, supplementation may augment the remaining myophosphorylase activity. In addition, most of the total body pool of pyridoxine is normally bound to myophosphorylase; therefore, the body's store of pyridoxine may be depleted in patients with McArdle disease.

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Pyridoxine (Nestrex)

 

Vitamin B-6 is a naturally occurring vitamin normally found in beans, grains, liver, meats, eggs, and vegetables.

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Nutritional Agent

Class Summary

Sucrose is a disaccharide that is readily split into glucose and fructose. These sugars circumvent the metabolic block in individuals with McArdle disease. Recently, sucrose (75 g 30 min PO before exercise) was shown to improve exercise tolerance to the point that no "second wind" phenomenon is observed.

Sucrose

 

Disaccharide from sugar cane made up of d-glucose and d-fructose.

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Nutritional Supplement

Class Summary

Creatine monohydrate supplementation may increase ATP availability and exercise capacity. A single study demonstrated an increase in exercise capacity while low-dose creatine monohydrate (60 mg/kg/d) was administered. Interestingly, a subsequent study by the same group revealed a deleterious effect at a dosage of 150 mg/kg/d.[9]

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Creatine monohydrate

 

Increases intracellular creatine and phosphocreatine levels. Converted to creatinine. Theorized to increase short-term energy supply to muscle tissue by rephosphorylation of ADP. Unknown if increased creatine in muscle improves athletic performance in nondepleted conditions.

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Angiotensin-Converting Enzyme (ACE) Inhibitor

Class Summary

Investigators studying a small cohort of 8 adult patients reported that treatment with 2.5 mg of ramipril subjectively improved reported scores of perceived disability but had no effect on objective functional outcomes measures. The improvement in the perceived disability scores was more pronounced in the D/D genotype and was absent in the I/D genotype. Although not significant, the D/D genotype also showed a slight improvement in peak VO2. The improvement in peak VO2 and subjective disability scores suggest a benefit of ramipril treatment in patients with the D/D genotype, but additional testing of a larger patient population is needed.[10]

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Ramipril (Altace)

 

Prevents conversion of Angiotensin I to angiotensin II, a potent vasoconstrictor, resulting in increased levels of plasma renin and a reduction in aldosterone secretion.

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Contributor Information and Disclosures
Author

Edward J Cupler, MD, FAAN  Head of Neurophysiology Section, Director of Neurology Residency Training Program, Consultant in Neurology, Neuromuscular Disorders, and Sports Neurology, King Faisal Specialist Hospital and Research Center, Saudi Arabia

Edward J Cupler, MD, FAAN is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and World Muscle Society

Disclosure: Genzyme Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching

Coauthor(s)

Robert D Steiner, MD  Credit Unions for Kids Professor of Pediatric Research; Faculty, Pediatrics, Molecular and Medical Genetics, and Program in Molecular and Cellular Biosciences; Vice Chair for Research in Pediatrics, Doernbecher Children's Hospital, Oregon Health and Science University; Director and Consulting Staff, Metabolic Bone Disease Clinic, Shriner's Hospital

Robert D Steiner, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Medical Genetics, American Society of Human Genetics, Oregon Medical Association, Society for Inherited Metabolic Disorders, Society for Pediatric Research, Society for the Study of Inborn Errors of Metabolism, and Western Society for Pediatric Research

Disclosure: Amicus Honoraria Consulting; Actelion Honoraria Consulting; Actelion Honoraria Speaking and teaching; Biomarin Honoraria Consulting; Genzyme Honoraria Consulting; Shire Honoraria Consulting

Melissa P Wasserstein, MD  Associate Professor, Departments of Genetics and Genomic Sciences and Pediatrics, Mount Sinai School of Medicine

Melissa P Wasserstein, MD is a member of the following medical societies: American Society of Human Genetics

Disclosure: Nothing to disclose.

Cydney L Fenton, MD  Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Edward Kaye, MD  Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders

Disclosure: Genzyme Corporation Salary Management position

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

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Enzyme histochemistry of 19-year-old male with McArdle disease.
 
 
 
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