Inherited disorder of body chemistry. Through Newborn Screening almost all affected newborns are...

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Inherited disorder of body chemistry

Transcript of Inherited disorder of body chemistry. Through Newborn Screening almost all affected newborns are...

Inherited disorder of body chemistry

Through Newborn Screening almost all affected newborns are diagnosed and treated early.

Untreated PKU causes mental retardation

At least 1 baby in 25,000 is born with PKU in the United States

Individuals with PKU can not process a protein called phenylalanine which is found in most foods.

With out treatment phenylalanine builds up in the bloodstream and causes brain damage and mental retardation.

ALL babies are tested for PKU in the United States before they leave the hospital. The baby’s heel is pricked and a few drops are taken for testing.

A special diet can help prevent PKU. ( very restricted)

In 2007 the FDA approved KUVAN as the first drug to help manage PKU.