Some help on biochem questionpertaining to metabolism glyoly

Some help on biochem question--pertaining to metabolism (glyolysis, glycogenesis, gluconeogenesis, glycogenolysis, TCA)

A patient complains of painful muscle cramps when performing strenuous physical exercise but has no other symptoms. A muscle biopsy indicates muscle glycogen concentration is much higher than normal. What is the enzyme affected in this patient (see list below) and what does it normally do? Why is glycogen accumulating? What is the treatment you might recommend? Another patient is lethargic all the time, and her liver is enlarged. A liver biopsy indicates large amounts of excess glycogen. She also has bouts of hypoglycemia. What enzyme is affected in this patient (see list below) and what does it normally do? Why is blood glucose ow in this patient at times? What treatment might you recommend? Possible defective enzymes: Muscle PFK-1, liver glycogen phosphorylase, triose phosphate isomerase, muscle debranching enzyme

Solution

CASE A. Reasion for this condation is defective activitys of muscle PFK1.And muscle debranching enzymes .normal function of pfk 1 is to convert fructose 6 phosphate to fructose 1,6 bis phosphate.and the function of debranching enzyme is to cut the glycogen at branches or to break gycosydic bond at branch.loss of function of the pfk1 leades to the accumulation of glucose this accumulated glucose will be converted in to glycogen.and loss of function of debranching enzyme leads to the defects in releaseing of free glucose from glycogen this inturn leads to the accumulation of glycogen. treatment for this condation is, diet low in charbohydrate and rich in protein.

CASE B.Reasion for thIis case is defective activity of liver glycogen phosphorylase .normal function of this enzyme is to release the terminal glucose as glucose 1 phosphate in a glycogen molecule from the non reducing end, this process is called as glycogenolysis.loss of function this enzyme leads to the less glucose release from the livr to blood this leades to accumulation of glycogen in liver and low glucose levels in blood (hypoglycemia).treatment for this condation is high charbohydrate diet because patient having low blood glucose.