Type Ib Glycogen Storage Disease Clinical Presentation

  • Author: Wayne E Anderson, DO; Chief Editor: George T Griffing, MD   more...
 
Updated: Jan 3, 2012
 

History

  • Initial presentation may be hypoglycemic seizures.
  • Although muscle weakness is not a uniform feature of glycogen storage disease (GSD), type I, Schwahn and colleagues report an association between reduced muscle force and poor metabolic control.[7]
  • Skin and pulmonary infections are frequent.
  • Patients may report symptoms of inflammatory bowel disease including cramps, fever, and abdominal pain.
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Physical

  • Physical examination findings may include hepatomegaly. Because many causes of hepatic injury exist, suspicion must be high.
  • Examination findings may suggest infection of lung or skin.
  • Findings also may include acute abdomen and perioral or perianal infections.
  • Hypotonia is found in infants.
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Contributor Information and Disclosures
Author

Wayne E Anderson, DO  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 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 Speaking and teaching; Forest Honoraria Speaking and teaching

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

Disclosure: Medscape 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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  2. Pan CJ, Chen SY, Lee S, et al. Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib. Mol Genet Metab. Jan 2009;96(1):32-7. [Medline].

  3. Hayee B, Antonopoulos A, Murphy EJ, Rahman FZ, Sewell G, Smith BN, et al. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology. Jul 2011;21(7):914-24. [Medline]. [Full Text].

  4. Melis D, Della Casa R, Parini R, et al. Vitamin E supplementation improves neutropenia and reduces the frequency of infections in patients with glycogen storage disease type 1b. Eur J Pediatr. Sep 2009;168(9):1069-74. [Medline].

  5. Veiga-da-Cunha M, Gerin I, Chen YT. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. Eur J Hum Genet. Sep 1999;7(6):717-23. [Medline].

  6. D'Eufemia P, Finocchiaro R, Celli M, Zambrano A, Tetti M, Ferrucci V. Absence of severe recurrent infections in glycogen storage disease type Ib with neutropenia and neutrophil dysfunction. J Inherit Metab Dis. Feb 2007;30(1):105. [Medline].

  7. Schwahn B, Rauch F, Wendel U, Schönau E. Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr. Sep 2002;141(3):350-6. [Medline].

  8. Pierre G, Chakupurakal G, McKiernan P, et al. Bone marrow transplantation in glycogen storage disease type 1b. J Pediatr. Feb 2008;152(2):286-8. [Medline].

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