Type Ia Glycogen Storage Disease --- von Gierke disease

In this disease body cannot break down glycogen for energy.
G-6-P deficiency is the specific enzyme deficiency in von Gierke disease.
Von Gierke disease is an autosomal-recessive condition.
Deficiency of G-6-P blocks the final steps of glycogenolysis and gluconeogenesis. This results in severe hypoglycemia.

---Severe fasting hypoglycemia
---HIGH level of glycogen in liver
---higl level of lactate
---hepatomegaly
---seizures
--- kidny stones
---gout
---hypotonia in infants
---xythomas on the buttoks
---short stature if left untreated