Glycogen Storage Diseases

Front 1

Most common glycogen storage diseases:

Back 1

-Von Gierke's
-Pompe's
-Cori's
-McArdle's

Front 2

Cause of Pompe's disease

Back 2

Deficiency of a-1,4-glucosidase

Front 3

What is a-1,4-Glucosidase used for?

Back 3

A glycogen degradation pathway in lysosomes - part of normal housekeeping, not metabolism.

Front 4

What glycogen storage disease is most common?

Back 4

Von Gierke

Front 5

Cause of Von Gierke:
-organs affected
-glycogen nature

Back 5

Deficient in Glu-6-phosphatase (not present in muscle anyway)
-Liver/kidney
-Glycogen normal, backed up so increased in amount.

Front 6

Cause of Pompe:
-organs affected
-glycogen nature

Back 6

Deficient a-1,4-glucosidase
-housekeeping lysosome enzyme - affects all organs
-normal glycogen, incr. amt

Front 7

Cause of Cori disease:
-organs affected
-glycogen nature

Back 7

Deficient Amylo-1,6-glucosidase DEBRANCHING ENZYME (bifunctnl)
-muscle and liver affected
-Short outer branches on glycogen

Front 8

Cause of McArdle disease:
-organs affected
-glycogen nature

Back 8

Lack Glycogen Phosphorylase
-Muscle only
-Normal glycogen, increased amt

Front 9

Andersen disease
-organs affected
-glycogen nature

Back 9

Deficient branching enzyme
-liver/spleen only
-very long outer branches

Front 10

Hers disease
-organs affected
-glycogen nature

Back 10

Deficient Glycogen Phosphorylase
-liver only
-increased amount