Page 175 - Biochemistry2 (08PB403)
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Type-VI (Her’s Disease)
• It is due to partial deficiency of phosphorylase
activity in the liver (about 50% of normal activity).
• It is characterized by moderate hypoglycemia, mild
acidosis and hepatomegaly.
• The disease presents with exercise-induced muscle
cramps and weakness as well as with hemolytic anemia.
• Hyperuricemia is common.
• A diagnosis can be made through a muscle biopsy that
shows excess glycogen and then further tests that will
show the levels of phosphofructokinase enzyme.
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