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 develops vomiting and diarrhea shortly after milk ingestion. A lactose tolerance test is administered. (The patient ingests a standard amount of lactose, and the glucose and galactose concentrations of blood plasma are measured at intervals. In normal individuals the levels increase to a maximum in about 1 hour, then decline.) The patient’s blood glucose and galactose concentrations do not increase during the test. Why do blood glucose and galactose increase and then decrease during the test in normal individuals? Why do they fail to rise in the patient? Case B The patient develops vomiting and diarrhea after ingestion of milk. His blood is found to have a low concentration of glucose but a much higher than normal concentration of reducing sugars. The urine test for galactose is positive. Why is the concentration of reducing sugar in the blood high? Why does galactose appear in the urine?

Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
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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 develops vomiting and diarrhea shortly after milk ingestion. A lactose tolerance test is
administered. (The patient ingests a standard amount of lactose, and the glucose and galactose
concentrations of blood plasma are measured at intervals. In normal individuals the levels increase to a
maximum in about 1 hour, then decline.) The patient’s blood glucose and galactose concentrations do not
increase during the test. Why do blood glucose and galactose increase and then decrease during the test in
normal individuals? Why do they fail to rise in the patient?
Case B The patient develops vomiting and diarrhea after ingestion of milk. His blood is found to have a
low concentration of glucose but a much higher than normal concentration of reducing sugars. The urine
test for galactose is positive. Why is the concentration of reducing sugar in the blood high? Why does
galactose appear in the urine?

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