I love hearing about PKU history, about how the first child was treated. It is very important to understand where it started and how far we have come in 70 years and how important the diet is in the treatment. 

A diet to prevent brain damage

Often it doesn’t matter if with slip up with our diet or change our mind about what diet to follow. But for babies and young children who have phenylketonuria (PKU) if they don’t follow their PKU diet from birth then they will develop brain damage. In fact over 50 years ago, before newborn screening started, people who were born with PKU did not know they had it. They ate phenylalanine (protein) containing foods which caused their phenylalanine concentrations to remained high and they developed learning difficulties. Many of these people now live in care homes as they can not care for themselves.

New born screening History

New born screening has a big part to play in PKU history. It has saved 1000’s of people in the UK from brain damage. The first screening tests were ‘Phenistix’ nappy tests. They was performed at 4-6 weeks of life and a paper stick was pressed into a wet nappy and if it changed colour it was a positive result. This test was not very accurate and some cases were missed. in the 1960s, an American Doctor called Dr Robert Guthrie, developed a dried blood spot test (the heel prick test). This was more accurate and could be done earlier in life. The screening was rolled out in the UK in 1969. 

Dietary Treatment of PKU

The treatment in the UK is a low phenylalanine diet which is achieved by avoiding all high protein foods as they contain phenylalanine. This includes meat, fish, eggs, dairy, nuts, seeds, soya, tofu, beans and lentils. The protein source comes from phe free protein substitutes which have to be taken 3-4 times a day. They contain all the amino acids missing in the diet expect phenylalanine. Measured amounts of phenylalanine must be taken every day from foods such as potatoes, cereals and certain vegetables such as sweetcorn or peas. 


The treatment for PKU started in Birmingham in the UK. The first child to be treated with a special low phenylalanine formula was 2-year-old Shiela Jones at the Birmingham Children’s Hospital. Shiela had learning difficulties due to untreated PKU. This fascinating film from 1953 shows how Shiela improved in her mental ability after having the low phenylalanine formula and a low protein diet. It then shows the change in her after phenylalanine was added back in. 


The Ion Exchange Column

Louise standing next to the first ion exchange column to make protein substitute for PKU
PKU history, the first ion exchange column to make protein substitute

Here are the first ion exchange column which was used to make the first PKU formula for Shiela.  It is on display in the labs at the Birmingham children’s Hospital.

How they made the first protein substitute

The team that treated Shiela included Dr Horst Bickel, Dr John Gerrard, and Dr Evelyn Hickman. They made a low phenylalanine formula by pouring milk protein casein through a big glass tube of charcoal (the ion exchange column) to separate the phenylalanine out of the mixture. They then gave the formula to Shiela alongside a low protein diet. You can read that first paper in the Lancet 1953.

Dr Evelyn Hickman was a biochemist at the Children’s Hospital. The photo below also is on the wall in the labs. A good reminder of how successful the screening and diet has been in PKU – ‘Over the years, treatment as improved and mental retardation, which is part of the disorder,  has been eliminated.

A photo of Dr Evelyn Hickman that is on the wall at the Birmingham Childrens' hospital lab.


International PKU day is 28th June and in 2018 it celebrated the centenary year of Horst Bickel who was born 100 years ago on the 28th June 1918. He had a pioneering part to play in the PKU story. The treatment and diet has changed, developed and improved a lot over the last 60 years. New non diet treatments are now on the horizon and used in the USA and Europe. We hope they will be made available in the UK soon to help people that continue to struggle with the difficult, but life saving diet. We hope that we will be making more PKU history in the future. 

To find out more about Phenylketonuria (PKU) then head over to our PKU page.