TYPES | DEFECT-ENZYME | FINDINGS | ORG-AFFECTED |
I (Von Gierke’s disease) | Glucose-6-phosphstase | Severe fasting hypoglycemia, ↑↑ glycogen in liver, ↑ blood lactate, hepatomegaly | Liver Kidneys |
II (Pompe’s disease) | α-1,4 glucosidase(acid maltase) | Cardiomegaly and systemic findings leading to early death | All |
III ( Cori’s disease) | Debranching enzyme ( α-1,6 glucosidase) | Milder form of type I w/ normal blood lactate levels | Liver Muscle |
V ( McArdle’s disease) | Skeletal muscle glycogen phosphorylase | ↑ glycogen on muscle, but cannot break it down, leading to painful muscle cramps, myoglobinuria w/ strenuous exercise, all relieve w/ rest | Muscle |
Friday, June 24, 2011
GLYCOGEN STORAGE DISEASES
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