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Phenylketonuria
Phenylketonuria (PKU)
(
phenyl
+
ketone
+ ; ) is an
inborn error of metabolism
involving impaired metabolism of the
amino acid
phenylalanine
. Phenylketonuria is caused by absent or virtually absent
phenylalanine hydroxylase (PAH)
enzyme activity. The condition is also known as "phenylalanine hydroxylase deficiency."
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