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.
