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SlideshowReport

The metabolic pathway that breaks down phenylalanine and its relationship to certain genetic disease

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Each step in the pathway is catalyzed by a different enzyme, shown in the boxes on the right. If one of the enzymes is not functioning, the previous compound builds up, causing the conditions named in the boxes on the left. In this pathway, defects in phenylalanine hydroxylase, hydroxyphenylpyruvate oxidase, and homogentisic acid oxidase cause phenylketonuria, tyrosinosis, and alkaptonuria, respectively.
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