Summaries of two clinical case studies follow. For each case determine which enzyme is defective and designate the appropriate treatment, from the lists provided at the end of the problem. Justify your choices. Answer the questions contained in each case study. 15 marks Case A The patient complains of painful muscle cramps when performing strenuous physical exercise but has no other symptoms. A muscle biopsy indicates a muscle glycogen concentration much higher than normal. Why does glycogen accumulate? Case B The patient is lethargic, her liver is enlarged, and a biopsy of the liver shows large amounts of excess glycogen. She also has a lower than normal blood glucose level. What is the reason for the low blood glucose in this patient?
Essential nutrients
These are the organic compounds present in the food that provide nourishment essential for the development and growth of our body. Nutrients not only provide us with the required energy to carry out various biological processes but are also the building blocks for repair and growth in our bodies.
Vitamins
The vitamins are organic molecules required in low concentration for the proper functioning of the body. They cannot be generated in the organism and are taken into the body through the diet. The lack of proper vitamins results in diverse deficiency disorders. They are thus called essential nutrients. The important vitamins are vitamin A, vitamin B complex, vitamin C, vitamin D, vitamin K, and vitamin E.
Summaries of two clinical case studies follow. For each case determine which enzyme is
defective and designate the appropriate treatment, from the lists provided at the end of the
problem. Justify your choices. Answer the questions contained in each case study. 15 marks
Case A The patient complains of painful muscle cramps when performing strenuous physical
exercise but has no other symptoms. A muscle biopsy indicates a muscle glycogen concentration
much higher than normal. Why does glycogen accumulate?
Case B The patient is lethargic, her liver is enlarged, and a biopsy of the liver shows large
amounts of excess glycogen. She also has a lower than normal blood glucose level. What is the
reason for the low blood glucose in this patient?
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