Metabolic Research

Metabolism refers to the handling of biochemical compounds in the body, such as the breakdown, transport, storage and synthesis of fats, proteins and carbohydrates as well as the production of energy from food components. Inherited metabolic disorders (IMD) affect approximately one in 2000 children. Severe metabolic disorders can cause impaired physical or cognitive development, neurodegenerative disease and other disabilities, and death in infants or children. The Metabolic Research group aims to enhance the understanding of the natural history of inherited metabolic disorders and improve diagnosis and treatment of these diseases.

The group focuses on patient-oriented research projects. These include improved diagnostic methodology, better understanding of the natural history of metabolic diseases and detailed dietary analysis of protein and energy intakes of patients with these disorders to assess the effect on individuals’ growth and development. This research is already being implemented in diagnoses and will allow practitioners to better predict patients’ clinical outcomes. The team’s research will lead to evidence-based dietary therapy for patients with inherited metabolic disorders.  

Group Members: 
Avantika Mishra
Role: 
Medical Scientist
Flora Pearce
Role: 
Metabolic Social Worker
A/Prof Gerard De Jong
Role: 
Metabolic Physician
Dr Heidi Peters
Role: 
Metabolic Physician
Dr James Pitt
Role: 
Senior Medical Scientist
Jamie Errico
Role: 
Metabolic Dietitian
Dr John Odontiadis
Role: 
Medical Scientist
Dr Joy Lee
Role: 
Metabolic Physician
Kai Mun Hong
Role: 
Medical Scientist
Mary Eggington
Role: 
Medical Scientist
Erin Mullane
Role: 
Metabolic Dietitian
Maureen Evans
Role: 
Metabolic Dietitian
Nicholas Tzanakos
Role: 
Medical Scientist
Sally Morrissy
Role: 
Newborn Screening Nurse
Mia Normoyle
Role: 
Metabolic Nurse
Dr Nava Shaul-Lotan
Role: 
Metabolic Fellow
Pamela Linden
Role: 
Administrative assistant
Dr Lenize De Castro-Hamoy
Role: 
Metabolic Fellow
Dr Stanley Korman
Role: 
Metabolic Physician
Dr Nikki Buck
Role: 
Research Officer

The natural history and clinical outcomes of patients with inherited metabolic disorders.
This project aims to develop a better understanding of these disorders and provide information that will be reported to parents. It is hoped it will serve as an important step towards devising evidence-based therapies.

Improving the laboratory diagnosis of inborn errors of metabolism.
The group is using mass spectrometry, a powerful technique for the identification and analysis of a wide range of biomarkers, to identify new biomarkers and to develop novel, rapid screening methods for urine and blood samples from children with suspected metabolic disorders.

Understanding the relationship between protein to energy intake in establishing optimal metabolic control, growth and development of children with inherited metabolic diseases.
This research will lead to the development of evidence-based safe and optimal diets to prescribe to children with inherited metabolic diseases.

The neuropsychological outcome of patients with inborn errors of metabolism.

Collaborations: 

Affiliations

  • Professor Vicki Anderson, Critical Care and Neurosciences Theme, Murdoch Children's Research Institute
  • Professor Helen Truby, Department of Nutrition and Dietetics, Monash University