Clinical Lead - Dr Janelle Nisbet
Catchment criteria applies for referrals for this service. Patient referrals from outside the Mater SEQ Catchment (which includes Metro South and West Moreton Hospital and Health Services) may not be accepted.
This page contains information for general practitioners on how to refer patients aged 16 years and over to the Queensland Lifespan Metabolic Medicine service at Mater Hospital Brisbane.
This service provides care to adult patients with inborn errors of metabolism. A multidisciplinary team of medical specialists, nurses, dieticians and psychologists work collaboratively to develop individualised plans of care.
Referral Guideline Development
These Mater Referral Guidelines align with standardised best practice tools for referral to publicly funded specialist outpatient services developed in Queensland through the Clinical Prioritisation Criteria project.
Bulk Billed Clinics
Mater Health Services offers patients the opportunity to attend bulk billed clinics. To provide your patient with the opportunity to attend a bulk billed specialist clinic, please provide a named referral to one of our specialists listed above.
Current Waiting Time for Appointments
We provide up to date data on how long patients are waiting for their first appointment by specialty here.
Contact us
If you would like to discuss a referral, including clinical criteria, or update the status of a current patient please contact our priority GP phone line on 07 3163 2200
Conditions out of scope
The following conditions are not routinely provided at Mater Hospital Brisbane and are considered appropriate for GP care alone:
- Obesity
- Metabolic Syndrome or Syndrome X (Insulin resistance, hypertension, dyslipidemia, obesity)
Conditions in scope
Disorders of Amino Acid Metabolism
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis, please call 07 3068 4426 and discuss the referral.
- Growth percentile graphs for weight and height
- Stage/age of puberty
- Developmental delay
- Sight and hearing assessments
- Plasma amino acids and organic acids.
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Carbohydrate Metabolism
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis, please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Fatty Acid Oxidation
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Mitochondrial Function (specialist referral)
Essential information (Referral will be declined without this)
- General Referral Information
- GP referral accepted with proven diagnosis please call 07 3068 4426 and discuss the referral
- If there is no confirmed molecular diagnosis, concurrent referral for genetic investigations is required - Public or Private options are available
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Organic Acid Metabolism
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Peroxisomal Function
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service
|
Disorders of Porphyrin Metabolism
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Purine or Pyrimidine Metabolism
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Disorders of Steroid Metabolism
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Lysosomal Storage Disorders
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service
|
Patients with Undiagnosed Disorders
Essential information (Referral will be declined without this)
- General Referral Information
- If a mitochondrial disorder is suspected, referral to another specialist service is required for initial investigation. This may be neurology, ophthalmology, endocrinology or other as appropriate. Referral for mitochondrial disorders is only accepted with confirmed diagnosis.
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Urea Cycle Disorders
Essential information (Referral will be declined without this)
- General Referral Information
- If new patient and/or a proven diagnosis, please call 07 3068 4426 and discuss the referral
Additional referral information (useful for processing the referral)
- No additional information
Other useful information for management (not an exhaustive list)
- No additional information
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |
Sudden and severe metabolic decompensation (hyperammonaemia, metabolic acidosis, myoglobinuria/rhabdomyolysis Acute admission to an intensive care unit with an inborn error of metabolism A pregnant woman with a known diagnosis of an inherited metabolic disorder
| Regression A known metabolic disorder for which there is no known treatment
| Continuation therapy for an adolescent transitioning through to the adult service |
Other Metabolic Condition
Essential information (Referral will be declined without this)
- General referral information
- Relevant condition information
- Relevant pathology and imaging reports
Categorisation
Available appointments are provided to our patients based on clinical priority. A process of categorisation ensures safety and equity of access.
Category 1 – Urgent Clinically recommended timeframe for initial appointment is 30 days | Category 2 - Priority Clinically recommended timeframe for initial appointment is 90 days | Category 3 - Routine Clinically recommended timeframe for initial appointment is 365 days |