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 | Other features | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | GBE1 gene mutation | Autosomal recessive | 3p12 | |||||||
| Glycogen storage disease type V | McArdle disease | Muscle glycogen phosphorylase | PYGM gene mutation | Autosomal recessive | 11q13 | |||||||
| Glycogen storage disease type VI | Hers' disease | Autosomal | Liver glycogen phosphorylase | PYGL gene mutation | Autosomal recessive | 14q22 | ||||||
| X-linked | X-linked recessive | |||||||||||
| Glycogen storage disease type VII | Tauri's disease | Muscle phosphofruktokinase | PFKM gene mutation | Autosomal recessive | 12q13 | |||||||
| Glycogen storage disease type IX | GSD type IXa | Phosphorylase b kinase (deficiency in liver only) | PHKA2 gene mutation | X-linked recessive | Xp22 | |||||||
| GSD type IXb | Phosphorylase b kinase (deficiency in liver and muscle) | PHKB gene mutation | Autosomal recessive | 16q12 | ||||||||
| Glycogen storage disease type X | Phosphoglycerate mutase | PGAM2 gene mutation | Autosomal recessive | 7p13 | ||||||||
| Glycogen storage disease type XI | Lactate dehydrogenase A deficiency | Glucose transporter 2 | LDHA gene mutation | Autosomal recessive | 11p15 | |||||||
| Glycogen storage disease type XII | Aldolase A deficiency | Aldolase A | ALDOA gene mutation | Autosomal recessive | 16p11 | |||||||
| Glycogen storage disease type XIII | Beta-enolase | ENO3 gene mutation | Autosomal recessive | 17p13 | ||||||||
| Glycogen storage disease type XIV | Phosphoglucomutase type 2 | PGM1 gene mutation | Autosomal recessive | 1p31 | ||||||||
| Glycogen storage disease type 0 | Lewis' disease | Hepatic glycogen synthase | GYS2 gene mutation | Autosomal recessive | 12p12 | |||||||