Queensland Lifespan Metabolic Medicine Service

The Queensland Lifespan Metabolic Medicine Service provides diagnosis, care and treatment for children and adults with inborn errors of metabolism which are also called metabolic disorders.


The Metabolic Medicine clinic
Level 6 (6c), Queensland Children’s Hospital, South Brisbane 4101
Tuesdays  |  1pm–4.30pm
Thursdays  |  9am–12.30pm  |  1pm–4.30pm

Adult Metabolic Medicine Clinic
Queensland Diabetes and Endocrine Clinic, Mater Adult Hospital
Wednesday  |  9am-12.30pm

Who can access this service?

New patients

Referrals are accepted for all age groups from infants to adults.

Existing patients with complex care needs

Referrals are accepted for all age groups from children to adults. If the individual is 18 years or over the appointment will take place at the Mater Adult Hospital.

Catchment area

This service is available to individuals living in Queensland, northern New South Wales and the Northern Territory.

Do I need a referral?

You will need a formal referral to access this service.

How do I get a referral?

Referrals are accepted from:

  • adult and paediatric specialists
  • general practitioners.

Information for health professionals

The Queensland Lifespan Metabolic Medicine Service provides diagnosis, care and treatment for children and adults with inborn errors of metabolism. We also provide leadership and education on a statewide and interstate basis across the lifespan to all health professionals in all aspects of the management of inborn errors of metabolism (IEM, metabolic disorders). Children’s clinics are at the Queensland Children’s Hospital and adult clinics are at Mater Hospital Brisbane.

Referral instructions

Where a new patient presents with a proven diagnosis of any of the conditions or symptoms listed below, please call 07 3068 4426 and discuss the referral.

  • Disorders of amino acid metabolism e.g. phenylketonuria (PKU), maple syrup urine disease, tyrosinaemia type 1 and 2.
  • Urea Cycle Disorders (UCD) e.g. ornithine transcarbamylase deficiency (OTC), carbamoyl phosphate synthetase 1 deficiency (CPS1).
  • Organic acidaemias e.g. methylmalonic acidaemia, propionic acidaemia.
  • Disorders of carbohydrate metabolism eg galactosaemia, glycogen storage disorders, hereditary fructose intolerance.
  • Disorders of fatty acid oxidation e.g. medium chain Acyl Co-A dehydrogenase deficiency (MCADD).
  • Disorders of porphyrin metabolism.
  • Disorders of purine or pyrimidine metabolism e.g. Lesch-Nyhan syndrome.
  • Disorders of steroid metabolism.
  • Disorders of mitochondrial function e.g. MELAS, Kearns-Sayre syndrome.
  • Disorders of peroxisomal function e.g. X-linked adrenoleukodystrophy, Zellweger spectrum, Refsum disease.
  • Lysosomal storage disorders e.g. Fabry disease, Gaucher disease, Niemann Pick disease.
  • Congenital disorders of glycosylation.

Other at-risk individuals include those with:

  • episodes of rhabdomyolisis (elevated creatinine kinase, myoglobinuria)
  • persistent lactic acidosis
  • elevated plasma levels of ammonia/ammonium
  • undiagnosed disorders (particularly patients with regression, progressive neurological disorders, progressive multi-system disease or familial multi-system disease).

Patients are triaged and seen according to Queensland Health guidelines.

Urgent referrals
Contact the metabolic doctor on call via the hospital switchboard.
t: 07 3068 1111

Emergency clinical number
t: 07 3068 4426 (business hours)

Useful links

Metabolic Dietary Disorders Association

Contact details

General and appointment enquiries

t: 07 3068 2880
f: 07 3078 4079

Non-urgent enquiries and prescriptions

e: metabolic-medicine@health.qld.gov.au

Operating hours

Monday to Friday, 8am–4.30pm.