Glycogen Storage Disease, Type III Clinical Presentation

  • Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD   more...
 
Updated: Jan 13, 2010
 

History

  • Although the enzyme is found in all tissues, clinical manifestations generally are nonmyopathic.
  • History usually consists of infant seizures.
  • Other features include hepatomegaly and growth retardation.
  • Muscle weakness is very slow in progressing. Vigorous exercise is not associated with cramping, tenderness, or myoglobulinuria.
  • Cortical malformations are reported. Vincentiis and colleagues report one case of polymicrogyria.
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Physical

  • Debrancher enzyme deficiency may manifest as progressive weakness.
  • Hepatomegaly and splenomegaly are present. Unlike GSD I, kidney enlargement is not observed.
  • Growth retardation may occur.
  • In adults, it may progress to liver cirrhosis or hepatic adenomas.
  • Muscle wasting of interossei may occur.
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Contributor Information and Disclosures
Author

Wayne E Anderson, DO  Assistant Professor of Internal Medicine/Neurology, Western University of Health Sciences; Assistant Professor of Family Medicine, Touro University College of Osteopathic Medicine; Consulting Staff in Pain Management, Department of Neurology, California Pacific Medical Center; Consulting Staff in Neurology, Department of Neurology, California Pacific Medical Center

Wayne E Anderson, DO is a member of the following medical societies: American Academy of Neurology, American Medical Association, American Society of Law, Medicine & Ethics, California Medical Association, and San Francisco Medical Society

Disclosure: Cephalon Honoraria Speaking and teaching; Pfizer Honoraria Speaking and teaching; King Honoraria Consulting

Specialty Editor Board

Barry J Goldstein, MD, PhD  Director, Division of Endocrinology, Diabetes and Metabolic Diseases, Professor, Department of Internal Medicine, Thomas Jefferson University

Barry J Goldstein, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American College of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, and Endocrine Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

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, and International Society for Clinical Densitometry

Disclosure: Nothing to disclose.

Mark Cooper, MBBS, PhD, FRACP  Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University

Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD  Professor 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, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation

Disclosure: Nothing to disclose.

References

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