Metabolic and Therapeutics Program

Metabolic Laboratory

Outline

The Metabolic Laboratory within the Department of Genetic Medicine, consists of the Metabolic and Complex Lipids Laboratory.

In conjunction with the National Referral Laboratory and State Screening Service, the Metabolic Laboratory offers a range of services for the diagnosis of metabolic disorders. Primary screens include amino acids, organic acids, purines and pyrimidines, mucopolysaccharides and very long chain fatty acids (see tests and screens for a full listing).

In addition to diagnostic services, we offer services for the monitoring of patients under treatment for a range of metabolic disorders including phenylketonuria, urea cycle defects, homocystinuria, adrenoleukodystrophy and Refsum's disease (see monitoring programs for a full listing).

The Metabolic Laboratory offers metabolic services to the South Australian community in addition to specialised services to the wider Australasian and international community.

Tests offered by the service

How to access the service

To send samples to the Metabolic Laboratory for analysis please see the following pages for details of sample collection and shipment.

Related sites

National Referral Laboratory for the Diagnosis of Lysosomal Peroxisomal and Related
Genetic Disorders

New South Wales Biochemical Genetics Service

Society for the Study of Inborn Errors of Metabolism

Research Activity

The primary research interests of this section are the development of improved methods for the diagnosis, evaluation and monitoring of patients with metabolic disorders. A current area of investigation is the development of methodology for the utilisation of urine samples on filter paper for metabolic screens and tests. One of the major costs in metabolic testing, particularly for overseas patients, is the cost of sample transport. Improved methodology utilising filter paper samples will greatly reduce this cost.

Since the introduction of tandem mass spectrometry into the Department in 1998, this technology has become a major focus for the development of new tests and the improvement of current methodology. Ongoing investigations in this area include the determination of very long chain fatty acids for the diagnosis of peroxisomal disorders and determination bile acids for the early identification of liver disease as well as inborn errors of bile acid biosynthesis. Very long chain fatty acid determination by tandem mass spectrometry is currently undergoing validation and should be available in the near future.

Recent Publications of the Metabolic and Therapeutics Program

Hours

In special circumstances out of hours services are available through the Metabolic Physician on call. Please contact the WCH switchboard for contact details.

Contact details

	Metabolic Clinician
	Dr. Janice Fletcher Head, Metabolic Unit Phone: (08) 8161 7295 FAX: (08) 8161 7100 Email: janice.fletcher@adelaide.edu.au
	Metabolic Laboratory
	Mr. Rodney Harrison (FHGSA) Scientist in charge Phone: (08) 8161 6731 FAX: (08) 8161 7100 Email: rodney.harrison@cywhs.sa.gov.au
	Mr. Peter Sharp, BSc, Member of HGSA Phone: (08) 8161 6735 FAX: (08) 8161 7100 Email: peter.sharp@cywhs.sa.gov.au
	Laboratory Staff: Ms Minh-Uyen Trinh Ms Jennifer Blake Mrs. Gloria Owens