Metabolic Genetics (GMDS)

By Kaustuv Bhattacharya

Let's raise funds for Sydney Children's Hospitals Foundation!

What are inborn errors of metabolism?

Inborn errors of metabolism or genetic metabolic disorders are a group of rare, inherited conditions that affect the body’s metabolism. They are usually caused by a chemical reaction not functioning adequately and this affects the way the body can handle amino acids, protein, fat, carbohydrate or other complex chemicals.

What is the treatment for inborn errors of metabolism?

Treatment depends on the specific biochemical pathway that has been affected. This may include a specialised diet, medications or specific enzyme replacement therapies. For some disorders bone marrow, liver, or kidney transplantation may be required. The Metabolic Genetics team participates in international multi-centre clinical research of novel treatments including genetic therapies.

The service is raising money to support new treatments for rare diseases in the future

Thank you to my Supporters


Ann Simon

Thanks for all you did for Sofia


Nick, Sarah, Lilly & Henry Simon

Thank you for all you have done for our gorgeous niece Sofia, forever grateful xx


Kate Simon

Kaustuv you and your team do such amazing work!!! Thank you for taking such great care of Sofia


Phoebe & Daniel O’loughlin

Amazing work making such a big difference to children’s live.


Fleur & Jamie


R And R Thomas

Thank you


Caroline Gibbons


James Simon

Good luck in hitting your target, we are big supporters of this cause


Leanne Higgins

Keep up the amazing work that you do.


Ann Reeve

Thank you for all that you & the team have done for Dylan. To see my boy thriving and alive is amazing when the outcome could have been so different.


Laura Youl


Jessica Liston

We couldn’t be prouder of Sophia and her incredible parents for raising her and supporting her to be the beautiful, kind and cheeky girl she is today! Thanks to all the doctors and researchers for making miracles happen for our friends too.


Amy Park

Thank you for your care and looking after Sofia, Kate and Jonathan, a very special family. A great cause. Amy x


Catherine Fogarty

Incredible work! Thank you!


Leanne Wells


Wendy Ladhams


Damian Bromley


Austin Feldman And Krystal Whitlow


Gem Egelton

We’re in awe of the wonderful work you do! Thanks for looking after Sofia, Kate and Jonathan xx


Kathy Pitts


Kelly Mcfarlane



Alice Summers

For taking such good care of incredible Sofia, and other babies like her X


Yvette Wright


Kate Burns

Amazing work! Sending love and support!


Sue Anic