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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. Due to high demand, we DO NOT accept referrals for the following conditions which are considered appropriate for GP care alone:
Please include all of the minimum referral criteria and the following investigations relevant to the metabolic condition for which you are referring:
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)
Disorders of carbohydrate metabolism
For example: glycogen storage disease
Disorders of organic acid metabolism
For example: methylmalonic acidaemia, propionic acidaemia
Disorders of fatty acid oxidation
For example: medium chain Acyl Co-A dehydrogenase deficiency (MCADD)
Patients with episodic rhabdomyolysis
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
Disorders of mitochondrial function
For example: MELAS, Kearns-Sayre syndrome
Disorders of peroxisomal function
For example: Refsum disease
Lysosomal storage disorders
For example: Fabry disease, Goucher disease, Niemann Pick disease
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
Referrals can be faxed to 07 3163 8548.
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.
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
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
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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