Sandbox : anmol
Glycogen storage disease |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Glycogen storage disease
Glycogen storage disease | Enzyme deficiency | Genetics | Inheritence | Hypoglycemia | Muscle weakness | Hepatomegaly | Cardiomegaly | Elevated CK | |
---|---|---|---|---|---|---|---|---|---|
Glycogen storage disease type I | Von Gierke's disease | Glucose-6-phosphatase | |||||||
Glycogen storage disease type II | Pompe disease | Alpha acid-glucosidase | |||||||
Glycogen storage disease type III | Cori disease | Debranching enzyme | |||||||
Glycogen storage disease type IV | Andersen's disease | Branching enzyme | |||||||
Glycogen storage disease type V | McArdle disease | Muscle glycogen phosphorylase | |||||||
Glycogen storage disease type VI | Hers' disease | Liver glycogen phosphorylase | |||||||
Glycogen storage disease type VII | Tauri's disease | Muscle phosphofruktokinase | |||||||
Glycogen storage disease type IX | Phosphorylase b kinase | ||||||||
Glycogen storage disease type X | Phosphoglycerate mutase | ||||||||
Glycogen storage disease type XI | Fanconi-Bickel syndrome | Glucose transporter 2 | |||||||
Glycogen storage disease type XII | Aldolase A deficiency | Aldolase A | |||||||
Glycogen storage disease type XIII | Beta-enolase | ||||||||
Glycogen storage disease type XIV | Phosphoglucomutase type 2 | ||||||||
Glycogen storage disease type 0 | Lewis' disease | Hepatic glycogen synthase |