Feel The Change In PKU

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Feel The Change In PKU Feel The Change In PKU means making a real difference in the life of people living and dealing with PKU. Join us and

Awareness is the first step of any real change, so let's build an active community who wants to ! Phenylketonuria (PKU) is an inherited metabolic disorder characterised by mutations of the gene that encodes phenylalanine hydroxylase (PAH), the dysfunction of which causes high concentrations in the blood of phenylalanine (Phe). Nowadays, the standard of care for PKU is mainly based on two essential pillars: a lifelong low protein diet (that limits Phe intake from foods) and regular protein substitute administration (to support physiological protein synthesis). The main objective of the treatment is to maintain Phe levels in the recommended range, and the efficacy of the treatment is strongly influenced by compliance to the prescribed diet. As seen on evidence, compliance becomes increasingly difficult with age due to diverse factors. Bad taste, odour and aftertaste of amino acid-based protein substitutes are still a big issue that often causes adult PKUers to be less compliant to the diet or even leave it completely. Moreover, scientific evidence indicates that significant sub-optimal health outcomes still exist in compliant PKU patients. This is mainly due to the absorption profile of free amino acids (AA), which is very different from that of intact natural proteins, contained in common food. Free amino acids bypass the digestive phase, meaning that amino acids are absorbed quicker than proteins, giving place to plasma levels of amino acids that are higher, peak faster and decrease more quickly. Thus, the diverse kinetic profile of free amino acids has an impact on body metabolism and consequently affects PKUers' health and quality of life. International experts within PKU agree that there is still room for improvement in the PKU treatment to deliver improved taste and odour-free products, with the properties of natural protein, delivering a stable chemical environment associated with optimal physiological function and patient tolerance (https://bit.ly/EvolutionAAmixPKU)

Let's build a community of PKUers from all over the world, who are well aware that is just the beginning to embrace life!

Even if   happens on 29th February only once every 4 years, we are proud to support   every day of every year! In APR Re...
29/02/2024

Even if happens on 29th February only once every 4 years, we are proud to support every day of every year!
In APR Relief we know how essential raising awareness is and we all take our humble part to help making the difference in the life of patients and their families!
and join us in supporting

Have you ever prepared a  -Friendly leeks' cream? Would you like to try this version, by an Italian chef, containing abo...
27/02/2024

Have you ever prepared a -Friendly leeks' cream?
Would you like to try this version, by an Italian chef, containing about 26 g of Phe per serving?
Leave a comment to get the recipe 😋

Almost a year has passed since  , a game and training workshop dedicated to families, patients and specialists aimed at ...
22/02/2024

Almost a year has passed since , a game and training workshop dedicated to families, patients and specialists aimed at exploring aspects of the rare disease ( ).
The stars of this day were the kids who face the disease every day with courage and determination. But they do not do it alone. Behind them are their families, friends and communities ready to support them by giving the love they need.
This image comunicates the solidarity these children have with each other.

We want to be part of this wonderful chain of solidarity, so we make our contribution to build a world where every child, regardless of their illness, can grow up happy and achieve their dreams.
Together, we can spread awareness, promote research and ensure that every child with a rare disease, has access to the care they need.
For us, every day is

Protein substitutes are the basis of the   diet, but sometimes due to their unpleasant smell and taste and poor practica...
19/02/2024

Protein substitutes are the basis of the diet, but sometimes due to their unpleasant smell and taste and poor practicality, they tend to make compliance to the diet a little challenging.
Over the years, however, important advances have been made and innovative options for taste and convenience are available. Talk to your doctor and explain your needs to find the best formula for you:

For people with phenylketonuria, being compliant to a low-protein diet and to the intake of special amino acid mixtures is equally important for their every-...

In the world today there are more than 300 million people living with a rare disease. Behind each of these people there ...
16/02/2024

In the world today there are more than 300 million people living with a rare disease.
Behind each of these people there is a story, a journey and a daily battle often characterized by limited resources and insufficient support.
Let's not let rarity make them invisible!
Every voice matters, every person deserves access to appropriate care and support. Together we can make a difference. Join us to bring attention to these diseases, to encourage research, and to offer support to those in need. Together, we can turn rarity into solidarity and hope.
For us, every day is

12/02/2024

What are the key features that your protein substitute should have and in what order you would classify them:

- practical🎒
- tasty 😋
- natural🌱
- supporting social life👭👬
- no aftertaste💋
- no GI discomforts😊

Leave a comment below ✏️and stay tuned to discover more!

Unfortunately, many people still today don’t know what   is,  what it means for patients to live with it, the impacts th...
05/02/2024

Unfortunately, many people still today don’t know what is, what it means for patients to live with it, the impacts that can have on their lives and the efforts it requires. Sometimes what you don’t know is also difficult to understand, for this reason, increasing awareness around this topic is very important. Help us by sharing this educational video:

(PKU for short) is a rare genetic disease diagnosed at birth in most countries, thanks to Newborn Screening.Most parents have never heard of...

"The most important stage in rare diseases is awareness of the disease but also communication of the disease itself, so ...
21/12/2023

"The most important stage in rare diseases is awareness of the disease but also communication of the disease itself, so with clinicians at Regina Margherita Hospital we thought of creating this board game, to help families and children with PKU with communication, especially at school age. The goal is to allow them to tell their friends, schoolmates and relatives about PKU by playing.''
Marco Gargioli, Country Manager, APR Italy


"The most important stage in rare diseases is awareness of the disease but also communication of the disease itself, so with clinicians at Regina Margherita ...

It's been a while since the   took place in Turin, but the emotions from that special day are still vivid!In the video w...
12/12/2023

It's been a while since the took place in Turin, but the emotions from that special day are still vivid!

In the video we relive together some of the magical moments of the day spent with the young patients, their families and some specialists, which made it possible to start work on creating a simple and fun tool to tell the story of ( ).

In the coming days, we'll unveil what it's all about. Stay tuned!



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