Supporting those with an inherited metabolic disorder and their families so that they can thrive and live their best life.
We raise awareness of inherited metabolic disorders like PKU and other rare IEpMs, we build programs and develop resources from newly diagnosed infants through all life stages.
“MDDA provides me with a window to what is happening in Australia with regards to my PKU and allows me to reach out to others”
Philip
“As a MDDA member I feel connected and not alone with my son’s diagnosis. It eases my mind and reduces my anxiety. I know I will get help if I need it”
Melissa
Diagnosis
A metabolic disorder is diagnosed by the heel prick test.
The Metabolic Dietary Disorders Association acknowledges the decision by the Pharmaceutical Benefits Advisory Committee (PBAC) to defer the listing of Palynziq (pegvaliase) on the Pharmaceutical Benefits Scheme (PBS) for Australians living with phenylketonuria (PKU). Information regarding the PBAC outcome and a brief summary can be found here. We know this outcome will be disappointing for…
Pegvaliase (Palynziq) Consumer Comments – Close 21 January 2026 The Pharmaceutical Benefits Advisory Committee will consider pegvaliase (Palynziq) for the second time in March 2026 for the following proposed populations: Resubmission to request listing of pegvaliase for the treatment of patients aged 16 years and older with PKU who have inadequate blood phenylalanine control (baseline blood phenylalanine level above…
What Is Newborn Bloodspot Screening? Every baby born in Australia (around 99%) receives a heel‑prick test within 48–72 hours of birth. A few drops of blood are collected and tested for serious, rare inherited conditions — often before any signs or symptoms appear. 🌍 By the Numbers: Real Impact 🧬 A Legacy of Lifesaving Since the 1960s…
Life on the IEM Low-Protein Diet 🥕 What is a Low‑Protein Diet? People with IEM must limit protein intake to an extremely low level every day. This means: 🍕 What Do These Restrictions Mean? Most patients cannot eat pizza, birthday cake, regular bread, yogurt, ice cream, chocolate, hot dogs, hamburgers, or turkey at celebrations. Even common fruit and vegetables…
Join us for an unforgettable weekend at the 2026 MDDA National Family Retreat, set in the beautiful surrounds of Sanctuary Cove! This much-loved annual event brings together individuals and families living with an IEM (Inborn Error of Metabolism) to connect, share experiences, and support one another in a relaxed, welcoming setting. How to Register Visit…
You’re invited to the Metabolic Dietary Disorders Association Annual General Meeting Date: 23 November 2025 Time: 10.30am – 11am Place: Fairmont Resort, 1 Sublime Point Road, Leura NSW 2780 Members and Invited Guests Welcome! Members please RSVP and nominate a proxy if required by 14th November 2025. RSVP and questions please send to [email protected]
Have Your Say: Access to Palynziq for PKU A potential new treatment for PKU — Palynziq — may soon be submitted to the PBAC (Pharmaceutical Benefits Advisory Committee) for government funding consideration. We’re inviting the PKU community to join an important online Teams Meeting to help shape what access could look like if the submission…
Archers’ Metabolic Dietary Disorders Association Fundraiser Date: Saturday 28th June 2025, Time: 5pm – 7.30pmVenue: Mt Gravatt Bowls Club, 1873 Logan Road, Upper Mt Gravatt, Qld 4122Cost: $45 adult, $20 children 5-12 years, Children 0-4 years free All tickets include light refreshments and bare foot bowling with assistance to learn to play. Children must be supervised at…
Living with Phenylketonuria (PKU) as an adult means carrying a hidden mental load every single day. 🧠 From restaurant math to managing lifelong medical formulas, the effort is constant—but so is the resilience of our community.Swipe through to see the reality of adult PKU in Australia, how we defy the limits, and how MDDA has been supporting this journey through 60 years of newborn screening milestones. 🇦🇺💙 Head to the link in our bio to explore our adult peer networks, access lifestyle resources, or support our ongoing advocacy work! #AdultsWithPKU #PKUAwareness #MDDA #RareDiseaseAustralia #LowProteinLife NewbornScreening DietForLife...
For most babies, it starts and ends with a heel prick test.
For our families, that’s where it all begins.
Not just a “special diet.”
It’s weighing every meal. Tracking every gram of protein. Taking medical formula every single day. Regular blood monitoring. Planning meals, holidays, school events and social occasions around treatment.
For people living with PKU and other low protein metabolic disorders, this isn’t a lifestyle choice.
It’s lifelong medical management.
As we celebrate 60 years of newborn screening, we’re sharing the realities many families navigate every day—often unseen by the wider community.
💙 If this taught you something new, please share it. Donate to MDDA at the link in our bio
The more people understand PKU, the more support, awareness and inclusion our community can build.
Australia’s PKU Pioneer: Debbie Colyer OAM Celebrating 60 years of newborn screening through sharing the stories of those who lived it, shaped it and continue to advocate for future generations. #pku #iem #iepm #60yearsofnewbornscreening #pkuawareness...
60 Years of Newborn Screening in Australia For 60 years, one simple newborn screening test has changed the lives of families across Australia. For many in our community, it was the moment everything changed. A diagnosis they never expected. A journey they never planned for. This June, MDDA is sharing a month-long awareness campaign: Past • Present • Future Together, we’ll reflect on how far newborn screening and PKU/IEpM care have come, what life looks like today for families, and the future we’re hoping for. 💛 We’d love your help to spread these stories far and wide. Please share our posts across your socials, workplaces and communities throughout June. 💛Your support helps MDDA continue supporting the next family who receives a diagnosis they never expected. #MDDA #NewbornScreening #PKU #IEpM #60Years...
🌟 Thank You for an Incredible MDDA Family Conference! 🌟
What an amazing few days we’ve shared! A heartfelt thank you to every family who joined us — whether you travelled across the state or across the country. Your enthusiasm, kindness and community spirit are what make the MDDA Family Conference such a standout event each year.
Watching our community connect, learn, laugh and support one another is a powerful reminder of why this organisation exists. 💛
A huge shout-out to our dedicated volunteers and event team who kept everything running smoothly behind the scenes. We also extend our sincere thanks to the wonderful people and suppliers who helped bring this weekend to life:
✨Pete and Ben From the Grand Hotel Warrandyte ✨ Fairmont Resort Blue Mountains by MGallery ✨ Well and Good ✨ Sweet William ✨ OMG Decadent Donuts Blue Mountains ✨ BFree Foods ✨ Senza Gluten Free ✨The Spud Shed Trafalgar ✨ Gener8 Events
To our speakers, workshop hosts and Pathways team — thank you for sharing your expertise and creating supportive spaces for learning and connection.
We hope everyone left feeling uplifted, inspired, and part of a strong, welcoming community. 💛 We can’t wait to bring everyone together again at our next year!
IEpM/PKU Patients in Australia – We Want to Hear From You! 💬 Take our 15-min survey to help improve treatments & services for people living with an IEpM. 🛡️ Anonymous ⏳ Save & return anytime 👤 One response per member family with an IEp 🇦🇺 For Australian patients only 📋 Survey: link in bio Your feedback can make a real difference in improving IEM care and support across Australia. #IEMSurvey #PatientVoice #RareDisease #ColesMyerGiveaway #IEMAustralia #Advocacy #MakeChange...
June 28 is a special day for our community. 💙 Today we recognise International PKU Awareness Day and Neonatal Screening Day — a powerful reminder of the life-changing impact early diagnosis and treatment can have for those with PKU and other rare inherited metabolic disorders (IEMs). It’s also the birthday of two pioneers in our field, Dr Robert Guthrie and Dr Horst Bickel, whose groundbreaking work laid the foundation for neonatal screening around the world. At MDDA, we’re proud to carry on their legacy by raising awareness, building support programs, and providing essential resources for families — from the newly diagnosed through every life stage. As we near the end of the financial year, your support matters more than ever. Every donation helps us continue this important work, ensuring no one living with an IEM is left without care or connection. All donations over $2 are tax-deductible. 👉 Donate today and learn more about our support: link in bio Thank you for being part of our community 💛...
🩸🦶 Did you know one tiny heel prick could change a life forever? Every newborn in Australia is offered a simple test that screens for over 25 rare, serious conditions—often before any symptoms appear. Early diagnosis = early treatment = brighter futures. 🌟
👶 It’s how many of our MDDA families first discovered they had an IEM—and why their loved ones are now thriving!
💙 During #AwarenessWeek, we’d love to hear your story – how did you first learn about your child’s condition through newborn screening? Share below or repost this to help shine a light on early detection.
🎥 Learn more about newborn screening, including a short video featuring our amazing MDDA President Monique and her son Charlie, as they share their story and highlight the power of early detection: link in bio!
💙 MDDA is here for families at every stage – from diagnosis right through to life’s biggest milestones.
🙏 Donate today to help us keep providing PEEKaBU Bags, early support for newly diagnosed families, and ongoing care for those living with IEMs.
An important part of our Make Some Noise campaign in 2022 was shining a light on the real, daily struggles of living with PKU.
PKU is a lifelong condition — there is no cure, and while treatment exists, access can be limited. For many, that means living with constant stress, food restrictions, and feeling overwhelmed by the relentless management required every day. This video is a powerful compilation of voices from our community — people bravely sharing what it really feels like to live with PKU.
💬 This is their reality. While everyone’s experience is different, for many adults living with PKU, this video reflects a truth that is too often unseen....
Imagine a life where you can’t eat meat, eggs, dairy, nuts, or even too much bread or pasta — not by choice, but because your body can’t safely process protein.
That’s the reality for people living with an IEpM.
Every bite must be carefully planned, weighed, and counted — because just one extra gram of protein can have serious consequences.
👉 Want to help? ✔️ Share this post to spread awareness. ✔️ Donate to support the MDDA and families living with IEMs. ✔️ Take on The Great Protein Challenge! Try limiting yourself to just 6–8 grams of protein for one day. We dare you. 💪 It’s harder than you think....
🧬 Day 2 – PKU Fact Tuesday! PKU is... more than just a rare condition — it`s a lifelong journey. From strict diets to early detection, treatment makes all the difference. 👉 Swipe through today’s post to learn the facts and help spread awareness.
READ MORE ABOUT PKU HERE AT THE LINK IN OUR BIO
If you can, donate to support MDDA’s work helping Australians living with PKU and other inborn errors of protein metabolism (IEpMs). Every bit counts — and all donations over $2 are tax deductible! #PKUAwareness #LowProLife #MDDA #RareDisease #FromADropToALifetime #FactTuesday #IEMAwareness...
We open our Awareness Week and Donation Drive by remembering and celebrating Dr Robert Guthrie and his life-changing legacy. Thanks to his heel-prick blood test, millions of babies have been screened early for rare, serious conditions like PKU.
👉 Swipe through to learn more about Guthrie’s impact. 💛 To Read more & donate head to the link in our bio! #PKUAwareness #NewbornScreening #SupportALifetimeOfImpact #MDDA #RareDiseaseAwareness...
🌟 Good Luck to Our New School Starters and Returning Students! 🌟
Starting or heading back to school is such an exciting milestone—especially for children with Inborn Errors of Metabolism (IEM). To all our little champions, we’re cheering you on as you take on new adventures, make new friends, and continue to shine! 🌈✨
For parents and caregivers, preparation is key to ensuring a smooth transition and supporting your child’s well-being. Here are some tips from our comprehensive online resource to help you feel ready! You can access our full set of school starter tips by following the link here https://mdda.org.au/school-starters/.
We’re here to help—if there’s anything you need on your journey, please don’t hesitate to reach out! 💙...
25 for 25: Make This Christmas Truly Special! 🎄 This festive season, we’re embracing the magic of 25 with our 25 Days of Christmas campaign! Together, we’re aiming to raise $25,000 by December 25th to support families living with Inborn Errors of Protein Metabolism (IEpM). Did you know? Each year, approximately 25 babies are born in Australia with an IEM. That’s 25 little lives, 25 families, and countless moments where your support can make all the difference. Here’s how you can help: 🎁 Donate $25 (or more!)—every dollar counts via our https://www.givenow.com.au/mdda-appeal 🎁 Share this campaign with your friends, family, and community. 🎁 Join us in spreading awareness this holiday season. Every $25 raised brings connection, care, and support to those families. Together, we can ensure no one living with an IEM faces the future alone.
Let’s make the 25 Days of Christmas a time of generosity, joy, and real impact. 💛 Donate today and help us hit our $25,000 goal by December 25th! 🌟...
🌟 A Huge Thank You to Our Amazing Sponsors and Donors! 🌟
We are incredibly grateful to all our sponsors who made the 2024 MDDA National Family Retreat an unforgettable experience for everyone involved. Your support has allowed us to bring the IEM community together, share knowledge, and create lasting memories for those who attended.
A special shoutout to our sponsors: BioMarin, Cortex Health, iECURE, Menarini, Nutricia, PTC Therapeutics, Vitaflo
We also want to recognise the following companies who provided delicious treats: Well and Good, OMG Donuts, Liberate Foods, Sweet William Chocolate, Cheer Cheese, Syndian, Bite Me Fine Foods
A huge shout out to Pauline PKUNana and The Grand Hotel Warrandyte for the delicious low protein menu, preprepared with care and love!
Thank you for being part of our mission to support families living with IEMs. We couldn’t have done this without your generosity and commitment!
Rare Disease Day happens every year on February 28 (or 29 in leap years)—the rarest day of all. For MDDA and the IEM community, Rare Disease Day is a chance to share our experiences, teach others about living with a rare disease, and talk to policy makers. It creates a feeling of togetherness and common goals as we go through life in the IEM community. Let’s stand together on Rare Disease Day, raising awareness, pushing for change, and supporting each other on our special journey. This day reminds us that even though globally each rare disease affects only a small number of people, together they impact over 300 million individuals worldwide. Rare Disease Day brings hope and strength to many of us. It shows that our challenges are recognised, and our efforts to speak up can make a real difference. This day sheds light on the unique obstacles we face, from limited treatment choices to the complexities of managing our health. By spreading awareness, Rare Disease Day helps us get more funding for research, find new solutions, and improve access to the right healthcare. Rare Disease Day 2024 🤝 🌐💚 Share your story, spread the word. Let’s make Rare Disease Day a day that transforms lives! 🚀 #RareDiseaseDay #UnityInRare #MDDA...
MDDA raise awareness of inherited metabolic disorders like PKU and other rare IEMs, we build programs and develop resources for the newly diagnosed infants through all life stages.
Our cause relies on the kindness and generosity of donors to enable us to provide essential resources and support to those who need it most. Every dollar donated goes directly toward funding our programs and initiatives, allowing us to create positive change in the IEM community.
As the last day of the financial year we are reaching out to request your generous contributions to help us continue making a difference. All donations over $2 are tax deductible this financial year.
Donations to support our mission can be made here https://mdda.org.au/donate/ Like to know more about the care and support we provide visit us at https://mdda.org.au/...
Our hallmark event of the year, the MDDA National Family Retreat brings the IEM community together for a weekend of fun, kids & teens club, time to catch up with friends, make new friends, learn new things, great food and so much more! Register here mdda.org.au/retreat
We have a comprehensive retreat website where you will find everything you need to know about the weekend. How to register, great discounted retreat and accommodation packages, travel info etc. Numbers are strictly limited and room availabilities if extending will fill up fast – so don’t delay, secure your spot today!
If you have any questions about the event feel free to email [email protected]...
MDDA is registered with the Australian Taxation Office as an Public Benevolent Institution. We are endorsed as a Deductible Gift Recipient (DGR). All donations over $2 are tax deductible.
Disclaimer: Information presented within this website is intended for general purposes only and should not be construed as advising on diagnosis or treatment of any medical condition, if you have interest in any of the foods or treatments contained within this website check first with a qualified health professional.
In the spirit of reconciliation the Metabolic Dietary Disorders Association acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their Elders part and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.
