Genetics of von Gierke Disease (Glycogen-Storage Disease Type 1) Treatment & Management

Updated: Aug 10, 2017
  • Author: Karl S Roth, MD; Chief Editor: Maria Descartes, MD  more...
  • Print
Treatment

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. [10]  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. [11]

Next:

Surgical Care

Surgery is usually unnecessary after initial diagnosis.

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.

Previous
Next:

Consultations

See the list below:

  • Biochemical genetics specialist

  • Nephrologist

Previous
Next:

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. [12]

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.

Previous
Next:

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.

Previous