Question

McCardle syndrome is due to a skeletal muscle deficiency of glycogen phosphorylase. Which of the following...

McCardle syndrome is due to a skeletal muscle deficiency of glycogen phosphorylase. Which of the following would be observed in such a patient with this syndrome?

Skeletal muscle has high level of glycogen with no branches
Fasting hypoglycemia
Skeletal muscle has high level of glycogen with shorter than normal branches
Skeletal muscle has abnormally low glycogen
Skeletal muscle has high level of glycogen with normal structure

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The correct answer for this question is "Skeletal muscle has high level of glycogen with normal structure". This disease is also named as Type v glycogen strorage disease. It is an autosomal recessive disorder which is marked by the deficiency of enzyme glycogen phosphorylase. This leads to the accumulation of glycogen.However, the structure of glycogen remains normal.

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