Glycogen Storage Diseases

Von Gierke's disease effected enzyme

glucose-6-phosphatase
Von Gierke's disease clinical features
- Massive enlargement of liver
- Failure to thrive
- Severe hypoglycemia
- Increased amount of glycogen
Cori's disease effected enzyme

Debranching enzyme
Cori's disease clinical features

Same as Von Gierke's but milder
Anderson's disease affected enzyme

Branching enzyme
Anderson's disease clinical features

Liver cirrhosis, death by age 2
McArdle's disease affected enzyme

Phosphorylase
McArdle's disease clinical features
- Severe muscle cramps during exercise
- Otherwise normal
Hers' disease enzyme

phosphorylase
Hers' disease clinical features

Like Von Gierke's but milder course

Author

jaguavai

114904

Card Set

Glycogen Storage Diseases

Description

Storage diseases and their enzymes

Updated

2011-11-06T20:49:29Z

Show Answers