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4 Cards in this Set

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  • Back
Glycogenoses:
Group of glycogen storage disorders due to a hereditary enzyme defects
1) Type I:
glycogenosis with liver and kidney enlargement.
a. Pathogenesis: A glucose-6-phosphatase defect
Diagnosis with liver biopsy!.
2) Type II
hereditary, generalized lysosomal glycogenosis with muscle weakness.
a. Pathogenesis: A defect in the acidic a(1,4)-glucosidase in lysosomes of the hepatic, cardiac, and skeletal muscle cells, and in the CNS and lymphocytes, blocks the lysosomal breakdown of glycogen, which accumulates in the lysosomes, creating spider-like glycogen storage cells and cellular damage.

Biopsy from muscles!
3) Type III
: glycogenesis with cardiomegaly, hepatomegaly, and muscle weakness.
a. Pathogenesis: An amylo-1,6-glucosidase (debranching enzyme) defect in cardiac and skeletal muscles cells, hepatocytes, and enterocytes.