Tuesday, March 22, 2011

Phenylketonuria (PKU)

INFO ON PKU

Phenylketonuria (PKU) is a genetic disorder that causes the body not to process a protein called phenylalanine (Phe)

PKU is treated by a special diet aimed at lowering Phe levels in the body.

There is no way to prevent PKU, but proper management can prevent complications

When a baby is born the doctors preform a heelprick blood test the blood test will determine if the baby have PKU and parents who are the carrier can be tested the tested because doctor can detect high phenylalanine in urine

PKU is found on which is found on chromosome 12

There has been no major breakthrough in PKU treatments


When both parents are carriers of the faulty PKU gene, their child will be born with PKU if they receive one copy of the faulty gene from each parent. When both parents are carriers, the possibilities in each pregnancy are:
  • 25% chance of having an affected child
  • 50% chance of having a child that is a carrier
  • 25% chance of having a child that is not a carrier.
Symptoms:
  • musty odor to the skin, hair, and urine
  • vomiting
  • diarrhea
  • sensitivity to light
  • screaming episodes
  • head banging
  • repetitive rocking

    Foundation

    Informational video
    http://www.youtube.com/watch?v=4xkH8_-lkFI
    Three sources
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