What is PKU?

PKU or Phenylketonuria is a rare inherited (genetic) metabolic disorder, in which the liver cells cannot convert PHE (phenylalanine) to TYR (tyrosine). 

It affects 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 both parents and only occurs when both parents carry this gene, even then the chances of it being passed on are one in four.  All babies born in NSW undergo a compulsory blood screening process. This is done by a sample collected on a Guthrie Card by way of a heel prick, at approximately 4 day of age. If this shows an elevated level of phenylalanine   a follow up Guthrie card is organised. If this shows further elevated levels, the family  is asked to attend a specialised unit for advice. 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. 

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