This laboratory tests patient samples for abnormal compounds that indicate inborn errors of metabolism (a class of genetic disorders). These disorders usually result from a defective enzyme involved in the breakdown of protein, fat or carbohydrate which causes abnormal metabolites to accumulate in blood or urine.

Patients throughout Victoria and Tasmania are tested for a variety of different metabolites (such as amino acids, organic acids, acyl carnitines and glycosaminoglycans) and previously diagnosed patients are monitored to ensure that diet or drug therapy is being effective.

Since the introduction of the expanded newborn screening program using tandem mass spectrometry, an increasing number of children with inborn errors of metabolism are being detected in the neonatal period. Additional testing and monitoring by the metabolic screening laboratory is required to confirm these initial screening results.

Tandem mass spectrometry is also being used to broaden the scope of our testing and introduce a number of novel tests.

Tests & specimen requirements

Tests: further details on costs and turnaround times

Publications

The Team

Laboratory Head

• Dr James Pitt BSc (Hons), PhD, FHGSA

Senior Medical Scientists

• Mary Eggington
• Avantika Mishra
• Kai Mun Hong

For Further Information

• Metabolic Services