Metabolic Clinic

Phone:	9845 3452
Fax:	9845 1864
Email:	Johnc@chw.edu.au
Location:	Western Sydney Genetics Program, Diagnostic Services building, level 1

The Genetic Metabolic Diseases Service is one of the clinical arms of the Western Sydney Genetics Program (WSGP). This is a multidisciplinary service that provides a consultative diagnostic service and clinical care for children and young adults with inborn errors of metabolism from all over NSW.

The service provides comprehensive management for such diseases as:

• amino acid disorders (including phenylketonuria, tyrosinaemia, homocystinuria, and maple syrup urine disease)
• carbohydrate metabolism disorders (including galactosaemia)
• urea cycle disorders
• organic acid disorders
• cobalamin and folate metabolism disorders
• fatty acid oxidation defects
• organellar disorders (including mitochondrial disorders, lysosomal storage disorders, and peroxisomal disorders)
• Rett syndrome (as part of a multidisciplinary management clinic).
• Lipid disorders - Hypercholesterolaemia

The service also receives referrals from interstate and internationally for consultation relating to a wide range of metabolic disorders.

PKU & Metabolic Clinics

This service has outpatient clinics every tuesday morning, and every second wednesday, for a mixture of patients with PKU and other metabolic conditions. Both new referrals and ongoing patient reviews take place in clinic. A patient review meeting preceeds each clinic. Four times a year the team runs an multidisciplinary clinic to focus on patients with lysosomal storage disorders.

Clinic Bookings

New clinic appointments are coordinated by Jane Gick (maternity relief person for Helen O'Grady) & Rosie Junek, the clinical nurse consultants for the service on (02) 9845 3873, except for the Rett syndrome clinic, which is coordinated by Belinda Todd a genetic counscellor. Ongoing clinic appointments are made through the general outpatient booking system on (02 )9845 2525

Outreach Clinics

The service provides a full day outreach clinic for the Hunter region three times a year, which is an extremely well attended clinic that runs for 7 hours, and which has a similar format to the clinics in our outpatient department. This clinic is held at Hunter Genetics in Newcastle.

Adult Clinics

In July 1997, the service formalised an agreement with Westmead Hospital to transfer its adult patients to the adult team at Westmead. The adult clinic is run by Dr Jane Holmes-Walker, but is currently having limited intakes due to staffing shortages.

Staff

Head of Service

• Prof. John Christodoulou

Physicians

• Prof. Bridget Wilcken
• Dr Carolyn Ellaway
• Dr Ian Alexander

Dietitians

• Mrs Sue Thompson
• Mrs Barbara Dennison

Nursing

• Ms Helen O'Grady

Social Work

• Lynette Biviano

Related services and clinics

• Clinical Genetics
• Genetics
• Genetics Clinics
• Metabolic Clinic
• Western Sydney Genetics Program