What is PKU

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

Basically the liver cells are unable to effectively break down the amino acid called phenylalanine, which is present in most foods. When left untreated, this builds up in the bloodstream becoming toxic and over time rises to dangerous levels, damaging the brain causing mental retardation and other irreversible affects.

Each person with PKU can tolerate varying levels of protein a day which needs to be spread evenly across the day to avoid spiking of phenylalanine levels. To give you an example of how extreme the PKU disorder is, one egg is equal to approximately 6 grams of protein. The average person with classic PKU can tolerate 4 to 10 grams a DAY. An egg would be too much protein, and would cause blood levels to be too high and start to cause damage. This is why we will never ever be able to eat Meat, Fish, Eggs, Dairy, Lentils, Nuts, Pasta, Soy or Chocolate to name a few our entire life.

Essentially our diet is stricter than a Vegan.

The only reliable way this disorder can be effectively managed at this point in time so that mental retardation and other issues will not occur is through a strict diet, weighing & calculating most foods we eat to the gram in protein and plus consuming a supplement to make up for the loss of protein in our diet. Tolerance does not change even as we grow up. Our blood levels need to be closely monitored through a home blood test which needs to be sent to the screening laboratory for results.

Current research indicates that the diet should be continued for life.

PKU affects one in ten thousand (1 in 10,000) 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. Since the late 1960’s, all babies born have been routinely tested for this as part of the newborn screening program, however wouldn’t even know why this test is so important.

Identification of PKU in the 1930's was one of the greatest medical advancements in history, all initiated by the love of a mother who knew something was wrong with her children, however, she kept looking for doctors that would help her work out what was wrong with her two mentally retarded children.

There is a current research project headed by Professor John Christodoulou, Head of the PKU Clinic at The Children’s Hospital at Westmead that the Association is currently supporting. Securing ongoing funding for this crucial Research headed by Prof Christodoulou is proving difficult without support. All donations are fully tax deductible and support this worthy cause.

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