Page 263 - Biochemistry PharmD General

Phenylketonuria (PKU)

•Defective phenylalanine hydroxylase – phenylalanine accumulates in
body.

•Phenylalanine is transaminated to phenylpyruvate.

•Accumulation of phenylpyruvate leads to severe mental retardation
in infants.

•Persons suffering from phenylketonuria should not consume foods
containing high levels of phenylalanine, such as aspartame.

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