The Metabolic Diseases Unit is the Victorian and Tasmanian adult service for the provision of diagnostic and therapeutic care of genetic metabolic disorders.

Metabolic Diseases Unit provides inpatient and outpatient care for patients with:

  • Phenylketonuria
  • Urea Cycle Disorders
  • Organic Acidurias
  • Tyrosinaemias
  • Maple Syrup Urine Disease
  • Disorders of carbohydrate metabolism
  • Pompe Disease
  • Homocystinuria
  • Disorders of fat metabolism
  • Carnitine uptake disorders
  • Mitochondrial disease
  • Lysosomal Storage disorders- MPS
  • Other recognised genetic metabolic disorders

The Royal Melbourne Hospital Metabolic Diseases Unit provides specialised care for women with inborn errors of metabolism wishing to conceive. A team of specialist doctors, nurses and dietitians provides care to all preconception, pregnant and postpartum women across Victoria and Tasmania with genetic metabolic conditions.

Metabolic consultants

A/Prof Gerard De Jong
Head of Metabolic Diseases Unit

Dr Julie Panetta
Consultant Physician Metabolic Diseases Unit

Dr Timothy Fazio
Consultant Physician Metabolic Diseases Unit
Chief Medical Information Officer - EMR
Clinical Informatics Lead - Business Intelligence Unit

Metabolic Clinical Nurse Consultants

Christine Fischer, RN
Kaye Quick, RN

Metabolic Dietitians

Anne-Marie Desai, APD
Kate Lefebure, APD
Claire Rutledge, APD


Metabolic Diseases Unit City Campus Outpatients Clinic, Level 1 West MON, TUE Telehealth logo


We accept referrals for this service.

Referrals are triaged depending on priority. Emergency cases can present to the Emergency & Trauma Service at any time.

To refer a patient, complete and fax your referral to the Metabolic Diseases Unit on (03) 9342 4808.

You can use our MDU Referral Form or a template from your own system.

Referrals should include:

  • detailed clinical history for the patient
  • the reason for referral
  • patient details including address, date of birth and contact phone numbers
  • your details and provider number
  • the name of the consultant (for Medicare clinics)

Consider making referrals for chronic conditions indefinite.