Cori’s disease or glycogen storage disease type IIIa is caused by a deficit in t

Question

Cori’s disease or glycogen storage disease type IIIa is caused by a deficit in the debranching enzyme. Based sugar metabolism, please answer the following questions about Cori’s disease.

a) What organ(s) would you expect to be most affected by Cori’s disease?

b) Would you expect Cori’s disease to have a greater effect on glycogen synthesis or breakdown?

c) How would you expect the blood glucose levels of a patient with Cori’s disease to differ from a healthy individual 12 hours after eating a carbohydrate rich meal like homemade pasta? Explain your reasoning and justify your answer in biochemical terms.

Explanation / Answer

a) Liver and muscles are expected to be most affected by Cori’s disease. However, in some cases the disease becomes more generalized pathology and affects even other organs such as kidney, heart, and bowel.

b) Cori’s disease has a greater effect on glycogen breakdown. In general, AGL gene instructs for the synthesis of glycogen debranching enzyme. This enzyme breaks down glycogen between meals to be used as fuel. But in this disease AGL gene will be mutated leading to the production of nonfunctional glycogen debranching enzyme. This leads to the storage of abnormal, partially broken glycogen molecules within the cells.

c) People with this disease may have low blood sugar 12 hours after eating a carbohydrate rich meal like homemade pasta. This is because of the inability to release glucose from stored glycogen.

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