A child with point mutation presents with absence of glucose 6-phosphatase, hypoglycemia, and hepatomegaly. What pathology are these signs characteristic of?

Answer options

1. Von Gierke’s disease (Glycogen storage disease type I)
2. Cori’s disease (Glycogen storage disease type III)
3. Parkinson’s disease
4. Addison’s disease (Primary adrenal insufficiency)
5. McArdle’s disease (Glycogen storage disease type V)

Explanation

von Gierke disease is the most common of the glycogen storage diseases. This genetic disease results from a deficiency of the enzyme glucose-6- phosphatase, the deficiency impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis. Because no gluconeogenesis = no glucose =