The forgotten children

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 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 …

#GuthrieMemorialDinner – June 28th – PKUDay

International PKU Day is happening on June 28th. Spreading the word about Phenylketonuria is very important to achieve our goals. As we have announced in our last news post we have launched a dedicated website for the International PKU Day. It’s available at www.pkuday.org. For this year there is a special event planned as it’s the 100th anniversary of Robert Guthrie birth. The #GuthrieMemorialDinner is a special occasion and an easy way to show your support for Phenylketonuria. Learn more about the idea: To identify PKU babies affected by Phenylketonuria immediately after birth, Robert Guthrie invented the possibility for newborn screening, also known …

PKU Day Website launched

We are happy to announce the launch of the new PKUDay.org website. PKU Day is coming up June 28th. For this year we have planned some special events and hope that everybody will take part in. Spreading the word about Phenylketonuria (PKU) is important. International PKU Day gives us the chance to promote PKU and make it known better. Please help by sharing the website and social media accounts of International PKU Day. The biggest event for this year will be the “Robert Guthrie Memorial Dinner”. Read all about it on the PKUDay Website.

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E.S.PKU on Rare Disease Day 2016

Today, February 29th, it’s Rare Disease Day 2016! #PKU #RareDiseaseDay Metabolic Disorders, such as Phenylketonuria, is a rare disease. Help raise awareness for PKU so that people understand our situation better. You may want to check the official website for the rare disease day in order to find out what’s happening in your town! We want to share this video by Kevin Alexander to you, showing an inspiring PKU story. Also don’t forget to prepare yourself for June 28th – International PKU Day. Raising more awareness for Phenylketonuria is essential to achieve a better quality of life. To see why that is …

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Rare Disease Day 2016 – Get Active

Rare Disease Day 2016 is held on the last day of February. This means it’s on the 29th of February 2016. As Phenylketonuria is one of those rare diseases it’s important to honor this day and remember others about the existence of rare diseases. It’s important you get active yourself. Visit the official Rare Disease Day Website, or your local Rare Disease organization, for more information. We also want to share with you the official Video for the Rare Disease Day 2016. If you have a moment more to spare we also want to point you to the PKU Day. PKU …