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Metabolic Disorders Clinic - public patients

Purpose

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.

Scope of Service

This service provides care to adult patients with inborn errors of metabolism. 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, hypertendion, dislipidaemia, obesity)

Referral Criteria

Please include all of the minimum referral criteria and the following investigations relevant to the metabolic condition for which you are referring:

Metabolic condition Required referral investigations and patient information

Disorders of amino acid metabolism

For example: phenylketonuria (PKU), maple syrup urine disease, tyrosinaemia type I and II

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

For example: Growth percentile graphs for weight and height, stage/age of puberty, developmental delay, sight and hearing assessments, plasma amino acids and organic acids.

Urea Cycle Disorders (UCD)

For example: ornithine transcarbamylase deficiency (OTC), carbamoyl phosphate synthetase 1 deficiency (CPS1)

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Disorders of carbohydrate metabolism

For example: glycogen storage disease

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Disorders of organic acid metabolism

For example: methylmalonic acidaemia, propionic acidaemia

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Disorders of fatty acid oxidation

For example: medium chain Acyl Co-A dehydrogenase deficiency (MCADD)

Patients with episodic rhabdomyolysis

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Disorders of porphyrin metabolism

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral

Disorders of purine or pyrimidine metabolism

For example: Lesch-Nyhan syndrome

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Disorders of steroid metabolism If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

Disorders of mitochondrial function

For example: MELAS, Kearns-Sayre syndrome

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Disorders of peroxisomal function

For example: Refsum disease

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Lysosomal storage disorders

For example: Fabry disease, Goucher disease, Niemann Pick disease

If new patient and/or a proven diagnosis please call 07 3068 4426 and discuss the referral.

 

Patients with undiagnosed disorders

In particular: patients with progressive neurological disorders, progressive multisystem disease or familial multisystem disease

 

Episodes of rhabdomyolysis (elevated creatine kinase, myoglobinuria)

Elevated plasma levels of lactate

Elevated plasma levels of ammonia/ammonium

 

 

Mater Adult Referral Form

Referrals can be faxed to 07 3163 8548.

Referral Categorisation

Available appointments are provided to our patients based on clinical priority

This should be used as a general guideline only – categorisation will be based on the individual referral.

PRIORITY

SEMI-URGENT

ROUTINE

  • 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

Mater endeavours to see all priority patients within 30 days from GP referral

Mater endeavours to see all semi urgent patients within 3 months from GP referral

Mater endeavours to see all routine referrals within 12 months from GP referral

 

Our Team

Dr Janelle Nisbet Endocrinologist/Metabolic Physician
Anita Inwood Nurse Practitioner
Danyelle O'Brien Clinical Nurse
Clare Kreis Dietitian
Carolyn Uhlmann Psychologist

 

Contact Us

If you wish to discuss a referral with a medical officer or clinical nurse consultant from this specialty, please contact the Mater Metabolic Clinic on 07 3163 2500.

Content reviewed 14/06/2016

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© Mater Misericordiae Health Services Brisbane Limited ABN: 83096708922

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