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

$1.02k

Ann Simon

Thanks for all you did for Sofia

$520

Kate, Johnathon, Sofia And Cecelia

Sorry we couldn't make it, we’ll be there next year!! keep up the life-changing work, u really make a difference

$500

Henry And Rosie Gowans

Thank you for caring for us 💜

$400

Nick, Sarah, Lilly & Henry Simon

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

$313.20

Kate Simon

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

$263.75

Marianne Mcinerney

For saving my precious little angel 👼 Rosie

$261

Phoebe & Daniel O’loughlin

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

$250

Fleur & Jamie

$208.80

R And R Thomas

Thank you

$200

Henry And Rosie's Nonna And Gpa

Thank for looking after Henry and Rosie. You're just amazing and we're so grateful you are in their lives. Cheers to a wonderful, caring team!

$200

Matilda Bucknell

So grateful for all you do for our Rosie and the other children in your care.

$158.25

Nick Pinner

$156.60

Caroline Gibbons

$156.60

James Simon

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

$105.50

Paul Walsh

$105.50

Sarah Hofman

$105.50

Sue Woolfenden

$105.50

Tara Morrison

Thank you and the team for your continued care and support of our sons.

$105.50

Nichol Hildebrand

$105.50

Anonymous

Sorry I can't make the dinner but hope it goes well.

$104.40

Leanne Higgins

Keep up the amazing work that you do.

$52.75

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.

$52.75

Anne Squillacioti

Thank you 🙏

$52.75

Vicki Oliveri

⭐️Thank you for all that you do!⭐️

$52.75

Robert Beath

$52.75

Annie Derrick

$52.75

Zoe Pavy

Keep up the great work - you and your team are amazing

$52.20

Laura Youl

$52.20

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.

$52.20

Amy Park

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

$52.20

Catherine Fogarty

Incredible work! Thank you!

$52.20

Leanne Wells

$52.20

Wendy Ladhams

$52.20

Damian Bromley

$52.20

Austin Feldman And Krystal Whitlow

$52.20

Gem Egelton

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

$52.20

Kathy Pitts

$51.88

Kerrie Walsh

$50

Jenna Fallon

$50

Julie Smart

$50

Rachael & Ben Emblin

$50

Kelly Mcfarlane

❤️❤️❤️

$50

Jane Cunliffe-jones

$36.93

Merralee Gordon

always beside you Rosie........with stickers in hand

$31.65

Charlotte Cronin

$27

Matthew Paterson

$27

Nunz Losanno

Well done Rosie and Matilda!

$26.38

Larissa Brennan

A wonderful cause

$26.10

Alice Summers

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

$26.10

Yvette Wright

$26.10

Kate Burns

Amazing work! Sending love and support!

$25.94

Tahlia Savins

$21.10

Matthew Moon

$20.88

Sue Anic

$10.55

Sarah Mackie

$10.55

Toni-anne Nagy

$2

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