Glycogen storage diseases Flashcards
Type I (name)
Von Gierke Disease
Type II (name)
Pompe Disease
Type III (name)
Cori Disease
Type IV (name)
Anderson Disease
Type V (name)
McArdle Disease
Type VI (name)
Hers Disease
Type VII (name)
Tarui Disease
Type VIII (name)
(no name)
Type I (deficient enzyme)
Glucose 6-phosphatase
Type II (deficient enzyme)
(1,4) α glucosidase (lysosomal acid maltase)
Type III (deficient enzyme)
Glycogen debranching enzyme
Type IV (deficient enzyme)
Glycogen branching enzyme
Type V (deficient enzyme)
Phosphorylase
Type VI (deficient enzyme)
Phosphorylase
Type VII (deficient enzyme)
PFK-1
Type VIII (deficient enzyme)
Phosphorylase B kinase
Von Gierke (affected organ)
Liver, kidney
Pompe (affected organ)
All organs
Cori (affected organ)
Muscle, liver
Anderson (affected organ)
Liver, spleen
McArdle (affected organ)
Muscle
Hers (affected organ)
Liver
Tarui (affected organ)
Muscle
VIII (affected organ)
Liver
Von Gierke (clinical features)
Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis
Pompe (clinical features)
Cardiorespiratory failure; death, usually before age 2
Cori (clinical features)
Milder type 1:
Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis
Anderson (clinical features)
Progressive cirrhosis of liver; liver failure, death before age 2
McArdle (clinical features)
Limited ability to perform strenuous exercise; painful muscle cramps
Hers (clinical features)
Milder type 1:
Enlarged liver; failure to thrive; severe hypoglycemia; hyperuricemia; gouty arthritis; hyperlipidemia; mental retardation; lactic acidosis
Tarui (clinical features)
Like McArdle:
Limited ability to perform strenuous exercise; painful muscle cramps
VIII (clinical features)
Mild liver enlargement; mild hypoglycemia
Glycogen synthase (defective enzyme)
Decreased glycogen, hypoglycemia, postprandial lactic acidemia, fasting ketosis
