Conferences
#PKUDay2024
Exciting new research and clinical trials in the UK, which you can support for PKU Day 2024. June 28 is a chance for this rare disease community to raise awareness of the inherited metabolic condition, Phenylketonuria (PKU).
PKU
Articles on PKU (Phenylketonuria) and low protein diets; including research, treatments, new products, and more.
News
Review of the EU Guidelines on PKU
The guidelines...help inform policy changes and establish the best treatment practices in places where those are still being developed, and to support those in areas where treatment falls short.
News
PKU News, June 2024
Update on sepiapterin and other groundbreaking treatments. A primer on the PKU injection treatment PegPal, AKA Pegvaliase or Palynziq. A new way to distribute treatments for Rare Disease?
News
PKU future treatment update
The NSPKU conference held from 17-19 May 2024 included an update on possible new treatments for PKU. These are my notes from the sessions on sepiapterin, mRNA, gene therapy, solute carrier 6, and options for PegPal.
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PKU news May 2024
Looking for a massive online resource with recipe & product ideas, managing PKU and fitness, and honesty about living with PKU? Check out Tristan’s blog...
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Starting the Conversation
We wanted a space where adults with PKU felt able to hold an open discussion about managing PKU, and to collect data about our concerns in real time.
Low Protein
Emergency travel with PKU
People with PKU need to prepare for the unexpected, here are my tips for travel. What are yours?
What is LNAA?
Large Neutral Amino Acid (LNAA) treatment for PKU This is a supplementary therapy for PKU which is in use in some European countries. It is particularly aimed at those with mild PKU
Tips for blood spots
TW: discusses blood and needles. Not all lancets are equal! While no blood collection method is fun or painless, the type of lancet used does have a significant effect on pain and healing.
Sapropterin trial, part 3: the trial
The blood spots from my first week on the pills seemed to show a drop. I admit that I began to get excited. That was a mistake, and one I’d encourage others to avoid.
Low Protein
Sapropterin trial, part 2: Baseline testing
Maintaining this level of control would be a tough ask. But I discovered that, when I thought I had been strict on my diet in the past, I really hadn’t.
Low Protein
Sapropterin trial, part 1: genetics & patience.
A year after I went in for blood tests to determine if my PKU would respond, I finally took my first dose of sapropterin.