Von Gierke's disease( type 1 glycogen storage disease)
Glucose-6-phosphatase deficiency in liver, kidney, intestine.
Signs and symptoms
Severe fasting hypoglycemia
Appearance:Doll like face, thin extremities, protuberant abdomen and short stature.
Remember 5 H
Hypoglycemia (seizures)
High acid (lactic acidosis)
Hepatomegaly
Hyperuricemia
Hyperlipidemia
