Published online by Cambridge University Press: 08 February 2018
In cases where there is known to be a disturbance of metabolism it is natural to speculate upon the possible site of dysfunction in the organs and tissues of the body.
In phenylketonuria the basic biochemical error is a disordered metabolism of phenylalanine, the patient being unable to dispose of this substance at a normal rate (Jervis et al., 1940). The phenylpyruvic acid in the urine of phenylketonuric patients is derived from a deamination of phenylalanine in the kidney.
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