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.
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 […]
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 […]
Phenylketonuria (PKU) is a rare inherited disorder caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). This means people with PKU cannot properly break down phenylalanine (Phe) — an […]
Dr. Robert Guthrie: The Man Behind Newborn Screening 👶 🩺 A Life That Changed Millions of Others Born 28 June 1916, Dr. Robert Guthrie was an American microbiologist and physician who revolutionised newborn […]
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 […]
Location: Fairmont Resort, Blue MountainsDate: November 21-23, 2025 Join us for an unforgettable weekend at the 2025 MDDA National Family Retreat, held at the stunning Fairmont Resort in the Blue […]
This Christmas, we invite you to be part of something truly special. Metabolic Dietary Disorders Association Inc (MDDA) are the national peak consumer body dedicated to supporting, educating, connecting, and representing […]
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]...
We hope that you are enjoying the long weekend and spending quality time with family and friends! We hope that you all got a visit from the Easter Bunny and received some delicious LowPro chocolate.
Share with us your LowPro Easter Inspo & Hacks!...
BREAKING NEWS - An important win for the Australian PKU Community!
The Metabolic Dietary Disorders Association (MDDA) is excited to share the long-awaited news that as of 1 April 2023, Kuvan (sapropterin dihydrochloride) is now available on the Pharmaceutical Benefits Scheme (PBS) for the treatment of sapropterin-responsive adults living with hyperphenylalaninemia (HPA) due to phenylketonuria (PKU)! This follows the positive recommendation from the Pharmaceutical Benefits Advisory Committee (PBAC) in July 2022, which found that “sapropterin provides, for some patients, a significant improvement in efficacy over a Phe-restricted diet alone” and acknowledging “there was a high clinical need in a small patient population.”
To read our full statement visit our website (link in bio)...
Our community knows how to rally the troops when we need and now is the time! Spread the word… get your family, friends, boss, co-workers, neighbours, your barista, anyone…..encourage them to get involved and PLEDGE or PLAY during May/June in The Great Protein Challenge 2023! This is our major fundraiser and awareness campaign of the year. Registrations are now open thegreatproteinchallenge.com.au Who will take on the challenge to see if they can eat under 10g of protein for only one day. All funds raised go towards programs, resources and research to support all Australians’ living with an IEM to lead a life of full potential.
After the huge success of last years Retreat at the beautiful Sanctuary Cove in Queensland, we can now officially confirm that we are returning in 2023!
We are still finalising details and are hoping to open registrations VERY SOON so make sure you keep an eye out 👀
MDDA will also be offering hugely discounted extension packages for anyone interested in a pre or post Retreat holiday in the sun, so start planning your family vacay today....
2023 Reminder - Important Information About the IEM Food Grant
The Department of Health and Aged Care (the Department) review of clients who receive a monthly benefit payment under the Inborn Errors of Metabolism (IEM) program has begun. If you have received a letter from the Department advising that you have an overdue reapplication you must act now. The IEM programme office are happy to take calls from anyone who had received a letter to explain to them what is required or you may direct any enquiries to MDDA. It is a requirement of the IEM program that clients with dihydropteridine reductase, hyperphenylalaninemia or phenylketonuria are reassessed by their metabolic specialist and submit a reapplication form (Form A) every 12 months. Your monthly benefit payments may be suspended if the Department does not receive your reapplication form every year. The reapplication form (Form A) can be found on the Department’s website at https://www.health.gov.au/initiatives-and-programs/inborn-errors-of-metabolism-program. MDDA are planning an information webinar later in March with the Department for IEM grant recipients providing an opportunity to hear directly from the Department....
Rare Disease Day takes place on the last day of February, the rarest day of the year! MDDA joins rare disease groups from across the world to celebrate International Rare Disease Day! This important international campaign aims to raise awareness amongst the public and decision makers about rare diseases and their impact on patients’ lives. MDDA celebrates all of those who live with a rare disease. We are committed to improve understanding and awareness of all rare diseases and will continue to advocate for research and better treatment and support of all IEMs.
#RareDiseaseDay #ShareYourColours #MDDA
More information about Rare Disease Day can be found at rarediseaseday.org...
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.
