What Are Phenylketonurics?


Quick Answer

Commonly abbreviated as PKU, phenylketonurics is a rare disorder in which a baby is born with the inability to process phenylalanine, an amino acid. This leads to the accumulation of the amino acid in the body.

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Full Answer

Children and adult with PKU are usually at risk of developing a dangerous buildup of phenylalanine when they eat protein. The symptoms of the condition include poor bone strength, delayed development, hyperactivity, skin rashes, psychiatric disorders, intellectual disability and neurological problems. PKU is usually caused by a genetic mutation in the body causing the deficiency of the enzyme that is required to break down phenylalanine. Treatment involves taking a lifelong diet with limited proteins and taking a PKU formula, as stated by Mayo Clinic.

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