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9 Cards in this Set
- Front
- Back
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Type I
Von Gierke |
Defective Enzyme: Glucose-6-
phosphatase Organ affected:Liver and Kidney Glycogen in the affected organ: increased amount, but normal structure Clinical Features: massive enlargement of the liver; failure to thrive. Sever hypolycemia, ketosis, hyperuricemia, hyperlipemia |
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Type II
Pompe Disease |
Defective Enzyme:alpha-1,4-glucosidase (lysosomal)
Organ affected: all organs Glycogen in the affected organ: massive increase; normal structure Clinical Features:cardiorespiratory failure; usually death before the age of 2 |
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Type III
Cori Disease |
Defective Enzyme:Amylo-1,6-glucosidase (debranching enzyme)
Organ affected: Muscle and Liver Glycogen in the affected organ:increased amount; short outer branches Clinical Features:like type I but has a milder course |
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Type IV
Anderson Disease |
Defective Enzyme:branching enzyme (alpha 1,4->alpha 1,6)
Organ affected: Liver and spleen Glycogen in the affected organ:normal amount; very long outer branches Clinical Features: progressive cirrhosis of the liver. Liver failure causes death before the age of 2 |
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Type V
McArdle Disease |
Defective Enzyme: phosphorylase
Organ affected:muscle Glycogen in the affected organ: moderately increased amount; normal structure Clinical Features: Limited ability to perform strenuous exercise because of painful muscle cramps. Otherwise patient is normal and well-developed |
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Type VI
Hers Disease |
Defective Enzyme:phosphorylase
Organ affected:liver Glycogen in the affected organ:increased amount Clinical Features:like type I but milder |
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Type VII
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Defective Enzyme:Phosphofruktokinase
Organ affected:Muscle Glycogen in the affected organ:Increased Amount; normal structure Clinical Features: Like Type V |
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Type VIII
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Defective Enzyme:Phosphorylase Kinase
Organ affected: Liver Glycogen in the affected organ:increased amount; normal structure Clinical Features:mild liver enlargement; mild hypoglycemia |
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What are the differences in the Types I through VIII in their genetic inheritance pattern?
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Types 1-7 are inherited as autosomal recessive. Type 8 is sex-linked.
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