Biochemistry 4th Edition by Christopher Mathews,Kensal van Holde, Dean Appling, Spencer Anthony Cahill

Exercise 5

One can identify phenylketonurics and PKU carriers (heterozy-gotes) by means of a phenylalanine tolerance test. One injects a large dose of phenylalanine into the bloodstream and measures its clearance from the blood by measuring scrum phenylalanine levels at regular intervals. Sketch curves showing relative blood phenylalanine concentration versus time that you would expect to be displayed by (a) a PKU patient, (b) a heterozygote, and (c) a normal individual. What kind of tolerance test could you devise to distinguish between PKU resulting from either phenylalanine hydroxylase deficiency or dihydropteridine reductase deficiency