A member asked:

Why is phenylketonuria not called phenylalanemia instead? is it related to ketone bodies in any way?

A doctor has provided 1 answer

Tradition: The original testing involved the detection of phenyl ketones in the urine, which are still part of the disease.Simple chemical reagents could permit detection in a simple office setting, rather than a specialized lab.A urine screening done on a kid with unexplained developmental delay, blond hair and seizures would lead to blood testing for PKU.There was a time before modern screening.

Answered 6/26/2014

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