Glycogen storage disease due to glucose-6-phosphatase deficiency
What is Glycogen storage disease due to glucose-6-phosphatase deficiency?
A rare inherited metabolic disease (comprising two major subtypes: type Ia and Ib) characterized by poor tolerance to fasting, growth delay and hepatomegaly resulting from accumulation of glycogen and fat in the liver.
Other condition names
- G6P deficiency
- GSD due to G6P deficiency
- GSD type 1
- GSD type I
- Glycogen storage disease due to G6P deficiency
- Glycogen storage disease type 1
- Glycogen storage disease type I
- Glycogenosis type 1
- Glycogenosis type I
- Hepatorenal glycogenosis
- Von Gierke disease
Inheritance type
Autosomal recessive
Age of Onset
- Infancy
- Neonatal
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