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Type Ia Glycogen Storage Disease Treatment & Management

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

Medical Care

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  • In general, no specific treatment exists to cure glycogen storage diseases (GSDs).
  • In some cases, diet therapy is helpful. Meticulous adherence to a dietary regimen may reduce liver size, prevent hypoglycemia, allow for reduction in symptoms, and allow for growth and development.
  • Zingone and colleagues demonstrated the abolition of the murine clinical manifestations of von Gierke disease with a recombinant adenoviral vector.[10] These findings suggest that corrective gene therapy of GSDs may be possible for humans.
  • An encouraging study by Bijvoet and colleagues provides evidence of successful enzyme replacement for the mouse model of Pompe disease, which may lead to therapies for other enzyme deficiencies.[11]
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Surgical Care

Liver transplantation may be indicated for patients with hepatic malignancy. Whether transplantation prevents further complications remains unclear, although a study by Matern and colleagues demonstrated correction of metabolic abnormalities after transplantation.[12]

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Consultations

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  • Due to the progressive kidney dysfunction, referral to a nephrologist may be appropriate.
  • Consultation with a hepatologist may be necessary for management of liver dysfunction.
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Diet

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  • Growing evidence indicates that a high-protein diet may provide increased muscle function in cases of weakness or exercise intolerance. Evidence also exists that indicates a high-protein diet may slow or arrest disease progression.
  • Prevention of hypoglycemia in affected infants can be challenging. Nasogastric drip-feeding has allowed continuous feeding during the night. Uncooked starch may be used in older children.
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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. Jones JG, Garcia P, Barosa C, et al. Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease. Metab Eng. 2009 May. 11(3):155-62. [Medline].

  3. Bandsma RH, Prinsen BH, van Der Velden Mde S, et al. Increased de novo lipogenesis and delayed conversion of large VLDL into intermediate density lipoprotein particles contribute to hyperlipidemia in glycogen storage disease type 1a. Pediatr Res. 2008 Jun. 63(6):702-7. [Medline].

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