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Type Ib Glycogen Storage Disease Follow-up

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

Deterrence/Prevention

See the list below:

  • Early diet therapy may help prevent hepatic disease, including hepatocellular carcinoma.
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Complications

See the list below:

  • Hypoglycemic seizures
  • Nephropathy with renal failure
  • Hepatic adenoma with potential malignant transformation
  • Inflammatory bowel disease (Recent evidence of an elevated platelet count in patients may be a warning sign of inflammatory bowel disease.)
  • Recurrent pulmonary and skin infections, likely secondary to neutropenia.
  • Secondary diabetes mellitus (may be a late complication)
  • Acute myelogenous leukemia (Pinsk and colleagues suggest surveillance for acute myelogenous leukemia as a potential complication of GSD Ib.[12] )
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Prognosis

See the list below:

  • The disorder is not curable.
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Contributor Information and Disclosures
Author

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.

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. 2009 Jan. 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. 2011 Jul. 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. 2009 Sep. 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. 1999 Sep. 7(6):717-23. [Medline].

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