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Type V Glycogen Storage Disease Clinical Presentation

  • Author: Wayne E Anderson, DO, FAHS, FAAN; Chief Editor: George T Griffing, MD  more...
Updated: Aug 25, 2014


See the list below:

  • Age at onset of symptoms depends on enzyme activity levels. Initial symptoms are cramps, fatigue, and pain after exercise.[8]
  • Because severity depends on enzyme activity, individual presentation is unique.
  • Some adults develop a progressive proximal weakness.
  • Some adults develop a fixed motor weakness.
  • The disorder has a unique "second-wind" phenomenon.[9] If a patient nearing fatigue slows exercise to a tolerable level, a point exists at which exercise may be increased again without previous symptoms[10] . According to Braakhekke and colleagues, this phenomenon may be secondary to increased recruitment of motor units, increased cardiac output, and use of free fatty acids for muscle metabolism.[11]
  • Burgundy-colored urine has been reported. It is thought to be a result of rhabdomyolysis after intense exercise.
  • Voduc and colleagues report an unusual presentation as unexplained dyspnea.[12]
  • The rate of rise in oxygen consumption per unit time (VO2) is relative to work rate increases.


See the list below:

  • Diagnosis is suggested by patient history.
  • Clinical findings may be absent upon physical examination.
  • Muscle strength and reflexes may be normal.
  • In later adult life, persistent weakness and muscle wasting may be present.
  • When clinical suspicion is present, diagnostic testing includes the ischemic forearm test, laboratory analysis, and electromyography.
  • Pillarisetti and Ahmed report a case of GSD V presenting as acute renal failure.[13]


GSD type V is an autosomal recessive disease, with heterozygotes usually not manifesting clinical features of the disease.

Contributor Information and Disclosures

Wayne E Anderson, DO, FAHS, FAAN Assistant Professor of Internal Medicine/Neurology, College of Osteopathic Medicine of the Pacific Western University of Health Sciences; Clinical Faculty in Family Medicine, Touro University College of Osteopathic Medicine; Clinical Instructor, Departments of Neurology and Pain Management, California Pacific Medical Center

Wayne E Anderson, DO, FAHS, FAAN is a member of the following medical societies: California Medical Association, American Headache Society, San Francisco Medical Society, San Francisco Medical Society, International Headache Society, California Neurology Society, San Francisco Neurological Society, American Academy of Neurology, California Medical Association

Disclosure: Received honoraria from Teva for speaking and teaching; Received grant/research funds from Allergan for other; Received honoraria from Insys for speaking and teaching; Received honoraria from DepoMed for speaking and teaching.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kent Wehmeier, MD Professor, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, St Louis University School of Medicine

Kent Wehmeier, MD is a member of the following medical societies: American Society of Hypertension, Endocrine Society, International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD Professor Emeritus of Medicine, St Louis University School of Medicine

George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, International Society for Clinical Densitometry, Southern Society for Clinical Investigation, American College of Medical Practice Executives, American Association for Physician Leadership, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical and Translational Research, Endocrine Society

Disclosure: Nothing to disclose.

Additional Contributors

David M Klachko, MD, MEd Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Missouri-Columbia School of Medicine

David M Klachko, MD, MEd is a member of the following medical societies: Alpha Omega Alpha, Missouri State Medical Association, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Sigma Xi

Disclosure: Nothing to disclose.

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Metabolic pathways of carbohydrates.
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