Glycogen storage disease due to glucose-6-phosphatase deficiency

What is Glycogen storage disease due to glucose-6-phosphatase deficiency?

Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation 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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