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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.
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Signs & Symptoms
The primary symptom of GSD1 in infancy is a low blood sugar level.
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The Children's Fund for
Glycogen Storage Disease Research
20 Sherwood Lane
Cheshire, CT 06410
" ... because every child deserves to be healthy."