Download PKU: phenylketonuria

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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
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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.