Overview

phenylketonuria


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(PKU)

A disorder in which phenylalanine hydroxylase (EC 1.14.16.1, 452 aa), the enzyme that converts phenylalanine into tyrosine, is congenitally deficient. The accumulation of phenylalanine seriously impairs early neuronal development but dietary control mitigates the problem.

Subjects: Medicine and Health — Science and Mathematics.


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