Sandbox : anmol
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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 | History and symptoms | Physical examination | Laboratory findings | Imaging | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Gene mutation | Inheritance | Chromosome | Hypoglycemia | Muscle weakness | Hepatomegaly | Elevated CK | Cardiomegaly | ||||
| Glycogen storage disease type I | Von Gierke's disease | GSD type Ia | Glucose-6-phosphatase | G6PC gene mutation | Autosomal recessive | 17q21 | + | ||||
| GSD type Ib | Microsomal glucose-6-phosphate transporter | SLC37A4 gene mutation | Autosomal recessive | 11q23 | + | ||||||
| Glycogen storage disease type II | Pompe disease | Infantile onset | Alpha acid-glucosidase | GAA gene | Autosomal recessive | 17q25 | |||||
| Late onset | Autosomal recessive | ||||||||||
| Glycogen storage disease type III | Cori disease | GSD type IIIa | Debranching enzyme (deficiency in muscle and liver) | AGL gene mutation | Autosomal recessive | 1p21 | |||||
| GSD type IIIb | Debranching enzyme (deficiency in liver only) | Autosomal recessive | |||||||||
| 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 | Autosomal | Liver glycogen phosphorylase | Autosomal recessive | |||||||
| X-linked | X-linked recessive | ||||||||||
| Glycogen storage disease type VII | Tauri's disease | Muscle phosphofruktokinase | PFKM gene mutation | Autosomal recessive | |||||||
| 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 | |||||||||