Metabolic Genetics at The Children's Hospital at Westmead

Contact details

  • General enquiries regarding clinics and referrals: (02) 9845 3654
  • For urgent referrals contact the on-call Metabolic Consultant on (02) 9845 0000
  • Follow-up appointments: (02) 9845 2525
  • Fax: (02) 9845 3121

Location: Western Sydney Genetics Program, Diagnostic Services building, Level 1.

The Genetic Metabolic Disorders Service is one of the clinical arms of the Western Sydney Genetics Program. This is a multidisciplinary service that provides a consultative diagnostic service and clinical care for children and adolescents with inborn errors of metabolism from NSW and the ACT.

The service provides comprehensive management for such disorders as:

  • 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 (as part of a multidisciplinary management clinic)

The service accepts referrals from specialists for consultation relating to a wide range of metabolic disorders.


The service has regular multidisciplinary outpatient clinics of several different types. Both new referrals and patient reviews take place at these clinics.

The Metabolic Clinic is the outpatients-based arm of the Genetic Metabolic Disorders Service. This is a multidisciplinary service that 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 a large array of inborn errors of metabolism.

The service runs specific clinics for all forms of inborn errors of metabolism every Tuesday morning and on alternate Wednesday mornings. A patient review meeting precedes the clinics.

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.

New referrals

  • New referrals are accepted from Paediatricians and Paediatric Subspecialists following a comprehensive general paediatric review.
  • All new referrals are presented at the monthly Intake Meeting and allocated to an appropriate/available specialist.
  • Following the Intake Meeting, patients are advised in writing of their appointment or referrers are contacted for further information.

Please address new referrals to A/Prof Carolyn Ellaway or Dr Kaustuv Bhattacharya or Dr Shanti Balasubramaniam.

Please fax new referrals to (02) 9845 3121 or post to:

Genetic Metabolic Disorders Service
Western Sydney Genetics Program
The Children's Hospital at Westmead
Locked Bag 4001
Westmead NSW 2145


  • Dr Julie Curtin (Acting Head of Service)
  • Clinical A/Professor Carolyn Ellaway
  • Prof Ian Alexander
  • Dr Kaustuv Bhattacharya
  • Dr Shanti Balasubramaniam
  • Dr Katherine Lewis
  • Dr Louisa Adams (General Paediatrician)
  • Dr Kate Lichkus (General Paediatrician)
  • Dr Minna Koo (General Paediatrician)


  • Sue Thompson
  • Ashleigh Mitchell

Nursing staff

  • Troy Dalkeith
  • Rosie Junek
  • Julie Palmer