Pku info

PKU is the term used to shorten PHENYLKETONURIA, which is a rare genetically inherited disease caused by an "autosomal recessive" gene. In order for a child to get PKU both parents, who do not have PKU, have the gene in them and both pass it on to the child. They are called silent carriers. So now comes the real inside story on why it happens. These children who are given this gene are given a gene to be deficient in an enzyme called phenylalanine hydroxylase which is responsible for converting the essential amino acid, phenylalanine, to another amino acid, tyrosine. When this conversion doesn't occur the result is the buildup of phenylalanine in the body. In the process of build up the excess phenylalanine is toxic to the central nervous system. Because of it being toxic this causes the severe problems normally associated with PKU. Mandatory testing started in the mid-1960's after it was discovered that children were responding well to the dietary treatment prescribed early just after diagnosis. This screening started was to be carried out in every state in the US and in many other countries.

If you are looking for a clinic in or near Portland Oregon call:    OHSU - Oregon Health Sciences University
                                                                                                          Child Development And Rehabilitation Center
                                                                                                           P.O. Box 574
                                                                                                          Portland, OR 97207-0574
                                                                                                          (503) 494-7859