PKU (Phenylketonuria)

 

Phenylketonuria (PKU) is a metabolic disorder that results in decreased metabolism of the amino acid phenylalanine.

Untreated, PKU can lead to intellectual disability, seizures, behavioral problems.

A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight., and mental disorders. It may also result in a musty smell and lighter skin.

Phenylketonuria is a genetic disorder inherited from a person’s parents. Many countries have newborn screening programs for the disease.

Treatment is with a diet low in foods that contain phenylalanine and special supplements.

The amino acid that PKU watches out for is Phenylalanine and special supplements.

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