Fundraising for Genetic Metabolic Disorders Service

By Damien Mares Join Me

Helping Children Thrive with Metabolic Conditions

Understanding Inborn Errors of Metabolism: What They Are and How They’re Treated

Inborn errors of metabolism—also known as genetic metabolic disorders—are a group of rare, inherited conditions that affect how the body processes nutrients. Although individually uncommon, together they represent an important category of medical conditions that can impact infants, children, and adults.

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What Are Inborn Errors of Metabolism?

At their core, these disorders occur when a specific chemical reaction in the body doesn’t function properly. Most often, this happens because a gene that should produce a certain enzyme is missing or isn’t working as it should. Without that enzyme, the body cannot correctly break down or process:

*Amino acids
*Proteins
*Fats
*Carbohydrates
*Other complex molecules

As a result, harmful substances may build up, or essential ones may become deficient—both of which can lead to serious health problems.

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How Are These Disorders Treated?

Treatment varies widely depending on the biochemical pathway involved, but may include:

1. Specialised Therapeutic Diets

Some conditions require strict dietary control to limit certain substances—such as phenylalanine in phenylketonuria (PKU)—or to provide alternative energy sources.

2. Medications

Medications may help remove harmful toxins, support alternative metabolic pathways, or correct underlying biochemical imbalances.

3. Enzyme Replacement Therapy

For certain disorders, replacing the missing enzyme can significantly improve symptoms and long-term outcomes.

4. Organ Transplantation

In selected cases, bone marrow, liver, or kidney transplantation may be recommended to restore normal metabolic function.

5. Emerging Therapies

The Metabolic Genetics team participates in international multi-centre research efforts exploring novel treatments, including gene therapy and other cutting-edge approaches—offering hope for more effective future care.

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Conditions Managed by the Metabolic Genetics Team

The team provides comprehensive diagnosis, treatment, and long-term management for a wide range of disorders, including:

Amino Acid Disorders

* Phenylketonuria (PKU)
* Tyrosinaemia
* Homocystinuria
* Maple syrup urine disease
* Urea cycle disorders
* Organic acid disorders

Fatty Acid Oxidation Defects

Carbohydrate Metabolism Disorders

* Galactosaemia
* Glycogen storage disorders

Cobalamin and Folate Metabolism Disorders

Organelle Disorders

* Mitochondrial disorders
* Lysosomal storage disorders
* Peroxisomal disorders

Rett Syndrome

Managed through a multidisciplinary clinic approach.

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Supporting Families Every Step of the Way

Living with a metabolic disorder can be challenging, but early diagnosis and the right treatment can make a profound difference. The Metabolic Genetics team is dedicated to providing expert care, ongoing support, and access to the latest advances in metabolic medicine.

Fundraising for the Metabolic & Multidisciplinary Team!

Hello, my name is Damien, and I’m the proud father of two amazing children, Winter and Riley. Both of my children live with a rare genetic disorder called Mucopolysaccharidosis Type I (MPS I) – Hurler Syndrome.


This condition affects many parts of their bodies and requires the support of multiple specialists, including Neurology, Cardiology, Respiratory Medicine, Orthopaedics (spine, hips, legs, hands, and feet), Bone Marrow Transplant, Dentistry, Ophthalmology, and General Medicine.


At the heart of their care is the incredible Metabolic / Multidisciplinary Team at Westmead Children’s Hospital. This team coordinates between all these specialties, guiding and supporting both the doctors and families through the complex and challenging journey that MPS I brings. They are the experts who understand the full picture of what children like Winter and Riley face — and they make sure every child receives the best care possible.


However, this extraordinary team is in desperate need of more doctors and nurses to keep up with the growing number of children who depend on them. Each child with MPS requires constant monitoring, treatment adjustments, and specialized coordination — something only possible when the team has enough hands and resources.


How Your Donation Helps;

Every dollar raised will go directly toward:


Hiring additional metabolic doctors and nurses, so that no child has to wait for critical care or delayed appointments.


Supporting advanced training for specialists working with rare genetic disorders.


Funding essential equipment and research that improves diagnosis, treatment, and long-term quality of life for children with MPS and similar conditions.


Providing family support resources, ensuring parents and carers receive the guidance and mental health support they need.


Your generosity will make a direct and lasting difference — not just for Winter and Riley, but for every child under the care of Westmead’s Metabolic and Multidisciplinary Team.


Together, we can give these kids the chance to live brighter, healthier lives.


Please consider donating today — your kindness truly changes lives..


Your donation can make a real difference to the lives of children and families who depend on Westmead’s Metabolic and Multidisciplinary Team every single day.


Thank you for your kindness and support,

Thank you to my Supporters

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Online Fundraising

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Damien Mares

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Northmead Squash Courts

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Tamar Manoukian

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Tanya Richardson

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Anonymous

Your kids are a credit to you! All the best in your fund raising.

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