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...
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...
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...
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....
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: Foods NOT allowed: Meat, fish, eggs, dairy, wheat, rice, nuts, legumes, and even many common vegetables and...
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 amino acid found in most foods — causing it to build up to toxic...
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 screening — a legacy that has saved...
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...
MDDA is pleased to share this important research opportunity for parents and caregivers to help shape the future of dietetic care for children. Are you a parent or caregiver whose child has received care from a dietitian? We’d love to hear your thoughts! We’re...
The February edition of our e-news is here! This month, we’re recognising Rare Disease Day, celebrating a huge advocacy win for low-protein milk on the PBS, and looking ahead to an exciting 2025—including Retreat planning! Read it here now! Stay connected, stay...
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 Mountains! This annual event is a special opportunity for individuals...
