Chapter 18, Problem 20P

Interpretation Introduction

Interpretation:

Sketch the curve predicting the concentration of phenylalanine versus time displayed by an affected individual, a heterozygote, and a normal individual.

How one can distinguish between PKU resulting from Phenylalanine hydroxylase deficiency or dihydropteridine reductase deficiency.

Concept Introduction:

The phenylketonuria is an autosomal recessive disorder. In the phenylketonuria affected patient, the rate of clearance of the phenylalanine from the blood is significantly low as compared to that of the normal and the heterozygote ones.

Pictorial representation:

Figure: The concentration of phenylalanine versus time graph.