Today: March 21, 2018, 3:41 pm

The forgotten children - #PKUDay

A touching documentary by the German Association for Phenylketonuria and allied inherited disorders (DIG PKU) calls attention to the fate of late diagnosed and untreated patients
The forgotten children - PKU
The forgotten children - PKU 2016-06-28 12:27:18
Phenylketonuria (PKU) is a rare, inherited disorder of protein metabolism. Patients are unable to metabolise the amino acid phenylalanine. Early diagnosed by newborn screening and treated with a low protein diet and an amino acid substitution, patients can develop normally and live their life to the full.

In untreated patients, high phenylalanine-levels in the brain cause severe impairments to mental and physical development. Neurological abnormalities such as hyperactivity, aggressiveness and lack of concentration, fitting and eczema are just some common symptoms. Untreated PKU patients can be severely handicapped and dependent on a lifelong care.

Today, after Føllings detection of the disease; Bickels first description of the nutritional therapy and the development of Guthries newborn screening; we recognise early diagnosed and well treated patients. However , it is easy for us to ignore those patients that were born before newborn screening was implemented and have never been diagnosed or were late diagnosed.

The fate of those affected teaches us:

- The nutritional therapy with low protein diet and amino acid-mixture is a medical necessity.

- Any successful treatment is based on newborn screening. This is a given.

- All PKU patients, early and late treated have a right for an appropriate treatment and care.

- We shall never forget late diagnosed PKU patients.

The film was adopted into English by the National Society for Phenylketonuria (NSPKU), U.K.

The film can be distressing for some. We recommend to presentation to younger children with parental guidance as they may not distinguish their PKU from the PKU shown in the film.

International PKU Day

Today the world-wide PKU Community celebrate the 100th Anniversary of Professor Bob Guthrie. Professor Guthrie had a PKU niece and wanted to find a way to diagnose those born with PKU at birth and ensure all babies born were screened for PKU.

He invented heel prick test also known as the Guthrie test for all new-borns.

This test was the fore-runner for worldwide New Born Screening that we recognise today.

He campaigned tirelessly in several countries to get New Born Screening adopted and along the way saved thousands of lives.

Today his legacy continues in screening for many Rare Diseases at birth.

Press Information
European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria
1000 Brussels


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