Genetics of Glycogen-Storage Disease Type I Treatment & Management

  • Author: Karl S Roth, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Apr 16, 2012
 

Medical Care

  • Diagnostic evaluation of glycogen-storage disease type I (GSD I) is most safely performed in a hospital, especially in infants, because of the potential for severe hypoglycemia. Many untreated children are admitted by a hematologist or gastroenterologist for the diagnosis of massive hepatomegaly.
  • Young infants require continuous nasogastric (NG) tube feedings to sustain blood sugar levels.
    • Older children can usually be switched to raw cornstarch feedings, which sustain blood glucose values for 4-6 hours. Trials using chemically-altered cornstarch that resulted in longer-term blood sugar support have been reported; these products are not yet widely available.[7]
    • Large quantities of raw cornstarch may be necessary, because overall use of this material is impaired in patients compared with healthy control subjects.
  • Pay scrupulous attention to the dental and oral health of patients with glycogen-storage disease type Ib to reduce incidence of infection.
  • Any intercurrent infection that causes decreased intake requires intravenous (IV) glucose support until resolution.
  • Currently, efforts are underway in animal models to develop gene therapy in patients with both forms of glycogen-storage disease type I.[8]
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Surgical Care

  • Surgery is usually unnecessary after initial diagnosis using open liver biopsy.
  • Promptly attend to any skin infection in patients with glycogen-storage disease type Ib because deep-tissue extension requiring surgical debridement and plastic reconstruction may develop.
  • In older children with glycogen-storage disease type Ib, cautiously evaluate abdominal pain for pseudocolitis.
  • Perform ultrasonography annually to evaluate for hepatic adenomas, which may require surgical removal.
  • Hepatic transplantation has been attempted in a few cases with modified success.
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Consultations

  • Biochemical genetics specialist
  • Nephrologist
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Diet

  • Diet, the mainstay of therapy for both types of glycogen-storage disease type I, requires close monitoring and adjustment by a highly specialized nutritionist.
  • The fundamental principle of diet management for these patients is maintenance of a steady-state balance between circulating glucose and existing glycogen stores. Consequently, a chief aim is to avoid excessive carbohydrates and calories while supplying adequate calories and protein for growth.
  • Because of the triglyceridemia characteristic in this disorder, counsel the patient to avoid high lipid intake.[9]
  • Most biochemical parameters can be substantially normalized and liver size can be reduced by approaching glucose homeostasis by means of overnight feeding.
  • Overnight NG feedings should be administered only by a pump equipped with an alarm in case of flow interruption.
  • When pancreatic amylase reaches sufficient activity in children older than 2-3 years, overnight feeding is usually replaced by raw cornstarch at bedtime and early morning hours.
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Activity

  • Instruct the patient to avoid all contact sports because of the propensity for infection and bleeding, as well as the potential for liver damage.
  • Encourage the patient to engage in all other physical activities up to individual limits. Personal limitations should be the basis for participation in school activities.
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Contributor Information and Disclosures
Author

Karl S Roth, MD  Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Specialty Editor Board

Edward Kaye, MD  Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, American Society of Gene Therapy, American Society of Human Genetics, Child Neurology Society, and Society for Inherited Metabolic Disorders

Disclosure: Genzyme Corporation Salary Management position

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Hagop Youssoufian, MD, MSc  Vice President of Clinical Research, ImClone Systems Incorporated

Hagop Youssoufian, MD, MSc is a member of the following medical societies: American Society for Clinical Investigation, American Society of Clinical Oncology, American Society of Hematology, and American Society of Human Genetics

Disclosure: Nothing to disclose.

Paul D Petry, DO, FACOP, FAAP  Consulting Staff, Freeman Pediatric Care, Freeman Health System

Paul D Petry, DO, FACOP, FAAP is a member of the following medical societies: American Academy of Osteopathy, American Academy of Pediatrics, American College of Osteopathic Pediatricians, and American Osteopathic Association

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

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Microsome is shown in relation to the substrate, glucose-6-phosphate, which has been released from cytosolic glycogen. This substrate is transferred across the microsomal membrane by the protein translocase, where by glucose-6-phosphatase acts on it to release free glucose and inorganic phosphate. Patients with glycogen-storage disease type Ia are genetically deficient in glucose-6-phosphate activity, while those affected with glycogen-storage disease type Ib lack translocase.
 
 
 
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