D2I2.
genetic

Phenylketonuria

Phenylketonuria (PKU) is an inborn error of that results in decreased metabolism of the amino acid phenylalanine. Untreated PKU can lead to intellectual disability, , behavioral problems, and mental disorders. It may also result in a musty smell and lighter skin. A baby born to a mother who has poorly treated PKU may have heart problems, a small head, and low birth weight.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Without treatment: intellectual disability, , hyperactivity, problems, musty odor

Causes — why it happens

  • · ( )

How it's found

  • ·Newborn programs in many countries

Treatment

  • ·Diet low in foods that contain phenylalanine; special supplements

Outlook

  • ·Normal health with treatment
Plain-language summary adapted from Wikipedia. Not medical advice.