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Glycogen storage disease type I
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Glycogen storage disease type I

Glycogen storage disease type I (GSDI) is an inherited disorder caused by the buildup of glycogen in the body's cells, which impairs the function of organs such as the liver, kidneys, and small intestines.

Overview

Also known as von Gierke disease, GSDI typically presents around 3 to 4 months of age. The accumulation of glycogen and fat in organs impairs their normal function. There are two primary types: GSDIa (caused by G6PC1 variants) and GSDIb (caused by SLC37A4 variants).

Symptoms

Common signs and symptoms include:

  • Low blood sugar (hypoglycemia), which can lead to seizures
  • Buildup of lactic acid (lactic acidosis)
  • High blood levels of uric acid (hyperuricemia)
  • Excess fats in the blood (hyperlipidemia)
  • Thin arms and legs with short stature
  • Protruding abdomen due to an enlarged liver (hepatomegaly)
  • Enlarged kidneys
  • Diarrhea and skin deposits of cholesterol (xanthomas)

In adulthood, individuals may experience thinning of the bones (osteopenia), gout, kidney disease, high blood pressure in the lungs (pulmonary hypertension), and abnormal ovary development. Liver tumors (adenomas) may also form, which can occasionally become cancerous (malignant).

GSDIb Specifics

People with GSDIb often have a shortage of white blood cells (neutropenia), making them prone to recurrent bacterial infections. They may also experience inflammatory bowel disease and oral issues, including cavities, gum inflammation (gingivitis), and mouth ulcers.

Causes

GSDI is caused by variants in the G6PC1 or SLC37A4 genes. These genes produce proteins that work together to break down glucose 6-phosphate into glucose, the body's primary energy source. When these proteins are ineffective, glucose 6-phosphate is converted into glycogen and fat, which accumulate in cells and cause damage.

Inheritance

This condition is inherited in an autosomal recessive pattern. Both copies of the gene in each cell must have a variant to cause the disorder. Parents of an affected individual each carry one copy of the altered gene but typically do not show symptoms.

Frequently Asked Questions

Children with GSDI typically need blood glucose checks every 2–4 hours during the day and at least once overnight. The target range is usually 70–100 mg/dL (3.9–5.6 mmol/L). Use a bedside glucometer and keep a log; if readings consistently fall below 70 mg/dL, adjust feeding or medication.
Frequent, small meals high in complex carbohydrates are essential. Uncooked cornstarch given every 3–4 hours can provide a slow glucose release. Avoid prolonged fasting, especially at night; consider a bedtime cornstarch dose or continuous glucose monitor to guide adjustments. Also limit high‑fat, high‑protein meals that can worsen lactic acid buildup.
Liver adenomas may present with abdominal pain, a palpable mass, or sudden weight gain. Routine abdominal ultrasound is recommended every 1–2 years starting in early childhood, or sooner if symptoms arise. If an adenoma is detected, MRI without contrast is preferred for follow‑up.
Neutropenia increases infection risk, especially bacterial. Regular complete blood counts every 4–6 weeks help monitor neutrophil levels. Prophylactic antibiotics (e.g., trimethoprim‑sulfamethoxazole) and granulocyte colony‑stimulating factor (G‑CSF) can be used during low counts or febrile episodes. Prompt treatment of fevers with broad‑spectrum antibiotics is critical.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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