Genetic Metabolic Disorders Service (GMDS)

Phone:	(02) 9845 3452
Fax:	(02) 9845 1864
Email:	johnc@chw.edu.au
Location:	Western Sydney Genetics Program, Diagnostic Services building, level 1

The Genetic Metabolic Disorders Service (GMDS) 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 adolescents 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, 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 also receives referrals from interstate and internationally for consultation relating to a wide range of metabolic disorders.

Clinics

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

Metabolic Clinic

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.

Follow-up Appointments:
For patients previously seen at the clinic, follow-up appointments are co-ordinated through the Outpatient Department on (02) 9845 2525.

New Referrals:
Referrals are accepted from Paediatricians, following a comprehensive general paediatric review.
New Referrals are to be addressed to "Drs Christodoulou, Ellaway and Bhattacharya"
New Referrals can be: 

Faxed:    (02) 9845 1864 or 

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

All new referrals are presented at the GMDS Intake Meeting (monthly) and allocated to an appropriate/ available GMDS Specialist.

Following the GMDS Intake Meeting patients are advised in writing of their appointment.

Further enquiries regarding Intake/Referrals can be directed to (02) 9845 3452.

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.

Rett Syndrome Clinic

A multidisciplinary management and assessment clinic held twice per month, a Management Clinic on the last Friday of the month and a New Patient Assessment Clinic on the 2^nd Friday of the Month.

Lysosomal Diseases Clinic

A multidisciplinary management clinic in collaboration with the ConnecTeD clinic is held four to six times a year on Tuesday mornings.

Adult Genetic Metabolic Clinic (Westmead Hospital)

Location                      University Clinics G & B, Westmead Hospital

Appointments             Ph (02) 9845 9780     Fax (02) 9845 9789

Consultants*               Dr Michel Tchan

Clinic Days                Thursday 9am-12:45pm, Weekly

                                 Mondays  9am-12pm, Fortnightly         

Method of referring     

Referrals can be made either by telephone contact with the Westmead Hospital Department of Genetic Medicine secretary (02 9845 9780), followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and directed to Dr Tchan by name. All appointment requests are triaged by clinical staff.

A genetic counsellor will usually contact new referrals prior to clinic visit to obtain a preliminary family tree and check if relevant previous medical information is available.

Clinic Function

Diagnosis, assessment, management and genetic counselling of adults with, or with a family history of, genetic metabolic conditions, including lysosomal storage disorders.

Urgent referrals

Contact the Westmead Hospital switchboard (02) 9845 5555 and page the Westmead Fellow in Genetic Metabolic Disorders, or after hours the consultant on call for genetic metabolic disorders.          

Staff

Head of Service

• Prof. John Christodoulou AM

Physicians

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

Dietitians

• Mrs Sue Thompson
• Mrs Barbara Dennison
• Ms Prue Watson

Nursing

• Mr Troy Dalkeith
• Ms Rosie Junek
• Ms Penny Owens

Genetic Counsellor (Rett clinic)

•  Ms Gayathri Parasivam

Social Work

• Ms Josephine Ivancsik