Contact
Phone: (02) 7825 3654
Follow-up appointments: (02) 7825 2525
Location: Western Sydney Genetics Program, Diagnostic Services building, level 1, The Children's Hospital at Westmead
About our service
The Genetic Metabolic Disorders service is part of the Western Sydney Genetics Program. The service provides a consultative diagnostic service and clinical care for children and adolescents with inborn errors of metabolism from NSW and the ACT.
Genetic disorders of the metabolism are inherited disorders that interfere with cellular metabolic processes. This means they can have life-threatening affects on many different organs. Diagnosis can be made through careful investigations and there are effective treatments.
The service provides comprehensive management for:
- Amino acid disorders (including phenylketonuria, tyrosinaemia, homocystinuria, maple syrup urine disease, urea cycle disorders and organic acid disorders)
- Fatty acid oxidation defects
- Carbohydrate metabolism disorders (including galactosaemia and glycogen storage disorders)
- Cobalamin and folate metabolism disorders
- Organellar disorders (including mitochondrial disorders, lysosomal storage disorders, and peroxisomal disorders)
- Rett syndrome.
Referral process for clinicians
Our department is using Consultmed to manage referrals. The Consultmed platform allows health professionals to send e-referrals to us securely.
- Please address new referrals to A/Prof Carolyn Ellaway or Dr Kaustuv Bhattacharya or Dr Shanti Balasubramaniam
- For urgent referrals contact the on-call Metabolic Consultant on (02) 7825 0000
Consultmed questions and technical support: helpdesk@consultmed.co
Referral and appointment process for parents and carers
Request a referral
To make an appointment at our clinic, you will need a referral from your GP, paediatrician or specialist.
They will assess your child, discuss your concerns, and make a referral to the appropriate service.
The service accepts referrals from specialists for consultation relating to metabolic disorders.
Track your referral
Our department uses Consultmed to manage referrals. Your referring clinician sends the e-referral to us using the secure Consultmed platform.
Once we receive the referral, we will send you an email with your tracking information. We will update you as we process the referral and book your appointment.
To receive these updates, please ask your referring clinician to include your email on the referral.
If your clinician has questions about Consultmed or require technical support, they can contact helpdesk@consultmed.co.
Need support?
If you need help or have questions about the referral and appointment process, please contact us.
Phone: (02) 7825 3654
Clinic information
Our service has regular multidisciplinary outpatient clinics of several different types. Both new referrals and patient reviews take place at these clinics.
Metabolic clinic
The Metabolic clinic is for outpatients of the Genetic Metabolic Disorders service. This service provides a consultative diagnostic service and clinical care for children with inborn errors of metabolism from all over NSW.
We have direct links with the NSW Newborn Screening Program and the NSW Biochemical Genetics service and coordinate an integrated clinical and laboratory approach to the diagnosis and comprehensive management of inborn errors of metabolism.
Clinic times: The service runs specific clinics for all forms of inborn errors of metabolism every Tuesday morning and on alternate Wednesday mornings. A patient review will usually happen before the clinic appointment.
Rett Syndrome clinic
For patients with Rett Syndrome, or suspected of having the syndrome, there is a diagnostic and multidisciplinary management clinic held twice a month on a Friday.
Lysosomal Diseases clinic
A multidisciplinary management clinic, in collaboration with the ConnecTeD clinic, is held four to six times a year.
