Glycogen Storage Disease GSD I

GSD-Ia has a long list of possible symptoms; tremors, irritability, hyperventilation, cyanosis, apnea, convulsions, sweating, pallor, cerebral edema or dysfunction. Nose bleeding, hyperuricemia, enlarged kidneys, liver shows an enlargement at birth or shortly thereafter, causing an abdominal protuberance due to the massive hepatomegaly. Steatosis and xanthoma might be found on surfaces such as elbows and knees. When fasting: hypoglycaemia, hepatomegaly, nephromegaly and hyperlipidaemia.