Read the text below and answer the question using only your knowledge of glycoge
ID: 102536 • Letter: R
Question
Read the text below and answer the question using only your knowledge of glycogen metabolism enzymes. young patient exhibits hypotonia (low muscle tone) and muscle weakness, developmental delays, and failure to thrive. Other findings include cardiomegaly (enlarged heart), hepatomegaly (enlarged liver), and accumulation of a very high concentration of normal lysosomal glycogen in various tissues, including the heart, liver, muscle, and skin. Blood glucose concentration is normal. The disease progresses rapidly. The patient has a glycogen storage disease. Which enzyme of glycogen metabolism is affected? alpha-1,4-glucosidase (a hydrolytic enzyme) phosphofructokinase branching enzyme amylo-alpha-1,6-glucosidase (debranching enzyme)Explanation / Answer
alpha-1,4-glucosidase.
It is a glycogen storage disease classified as glycogen storage disease type II. It is also called as Pompe disease and is the only glycogen storage disease caused due to a defect in lysosomal metabolism. Its clinical symptoms clearly differs from other forms of GSD, because it is caused by the deficiency of the lysosomal enzyme, alpha-1,4-glucosidase, which leads to the pathologic accumulation of normally structured glycogen within the lysosomes of most tissues. Its symptoms are;
cardiomegaly, hypotonia, catdiomyopathy, muscle weakness and failure to thrive.
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