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There is a disease called PKU which is caused by the lack of a working gene that makes an enzyme to break down the amino acid (phenylalanine) which is found in proteins.

A person who this rare genetic defect called phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria (PKU) will show signs of intellectual disability (formerly called mental retardation), delayed development, behavioral, emotional and social problems, psychiatric disorders, neurological problems that may include seizures, hyperactivity, poor bone strength, and skin rashes like eczema.


Also seen is fair skin and blue eyes, because phenylalanine cannot transform into melanin — the pigment responsible for hair and skin tone and an abnormally small head (microcephaly).
Notice that most of the symptoms are due to nervous system damages.

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