SIGNS & SYMPTOMS

Failure to thrive

SIGNS & SYMPTOMS

The primary symptom of GSD1 in infancy is a low blood sugar level (hypoglycemia). Symptoms of GSD1 are usually first noticed at three to four months of age when developmental delays become apparent.  Clinical symptoms include enlargement of the liver (swollen belly), elevated levels of lactate, uric acid and lipids, and seizures caused by repeated episodes of hypoglycemia.

 

Continued low blood sugar can lead to delayed growth and development and muscle weakness. Affected children typically have doll-like faces with fat cheeks, relatively thin extremities, short stature, and protuberant abdomen.

GSD1 is diagnosed with a simple blood test that indicates abnormal levels of glucose, lactate, uric acid, cholesterol or triglycerides.

  • Causes

    Glycogen Storage Disease is an inherited recessive genetic disorder.

    Causes

  • Signs & Symptoms

    The primary symptom of GSD1 in infancy is a low blood sugar level.

    Signs & Symptoms

  • Daily Management

    Diet is the cornerstone of treatment.

    Daily Management
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