Donations create a bright future for children with a rare disorder
Posted by Bruce Callaway
The Rotary Club of Pennant Hills proudly supports the Genetic Research Unit of Western Sydney at the Children's Hospital Westmead, which is presently engaged in research into Phenylketonuria (PKU) and other genetic disorders. PKU or Pheylkentonuria is a rare, inherited (genetic) metabolic disorder. It only effects one in ten thousand babies born in NSW each year. Although PKU is a very rare disorder, one in fifty individuals in the normal population are carriers of the gene that causes PKU.
A person with PKU has inherited the defective gene from parents and only occurs when both parents are carriers, even then the chances of it being passed on are one in four. All babies in NSW and the rest of Australia undergo a compulsory blood screening process after birth. This is done by a sample collected on a Guthrie Card by way of a heel prick, at approximately 4 days of age. If this shows an elevated level of phenylalanine a follow up Guthrei Card is organised. If PKU is diagnosed, the family is seen by a panel of clinicians and the diet is commenced immediately.
Current research indicates that the diet should be continued for life. Failure to adhere strictly to the diet may result in mental and physical retardation.
Follow the PKU Research Blog (click link below)
http://www.pkunsw.org.au/research-blog-full-article
A person with PKU has inherited the defective gene from parents and only occurs when both parents are carriers, even then the chances of it being passed on are one in four. All babies in NSW and the rest of Australia undergo a compulsory blood screening process after birth. This is done by a sample collected on a Guthrie Card by way of a heel prick, at approximately 4 days of age. If this shows an elevated level of phenylalanine a follow up Guthrei Card is organised. If PKU is diagnosed, the family is seen by a panel of clinicians and the diet is commenced immediately.
Current research indicates that the diet should be continued for life. Failure to adhere strictly to the diet may result in mental and physical retardation.
Follow the PKU Research Blog (click link below)
http://www.pkunsw.org.au/research-blog-full-article