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Metabolic Disorders – public patients 

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.

Clinical Lead - Dr Janelle Nisbet

Service Availability

 

This service provides care to adult patients with inborn errors of metabolism. A multidisciplinary team of medical specialists, nurses, dieticians and pyschologists work collaboratively to develop individualised plans of care. 

How to send a referral

                       

View list of conditions:

 

Scope of Service

Conditions out of scope

The following conditions are not routinely provided at Mater Hospital Brisbane:

View list of conditions:

Due to high demand, we DO NOT accept referrals for the following conditions which are considered appropriate for GP care alone:

  • Obesity
  • Metabolic Syndrome or Syndrome X (Insulin resistance, hypertension, dislipidaemia, 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)

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)

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)

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)

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)

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)

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)

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)

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)

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)

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

 

 

Bulk Billed Clinics

Mater Health offers patients the opportunity to attend bulk billed clinics. To provide your patient with the opportunity to attend a bulk billed clinic, please provide a named referral to one of the specialists listed above.

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 

Current Waiting Time for Appointments

We provide up to date data on how long patients are waiting for their first appointment by specialty here.

Referral Guideline Development

These Mater Referral Guidelines have been developed locally by GPs and specialists to support safe and quality referral to publicly funded specialist outpatient services.

 

Content last reviewed: 13 December 2023

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