If untreated, metabolic diseases can lead to life-threatening abnormalities in body chemistry.
What is a metabolic disease?
Inherited metabolic diseases are genetic conditions that affect the body's ability to break down nutrients and create energy.
If untreated, can lead to life-threatening abnormalities in body chemistry.
Our clinical team have extensive experience managing the treatment of these rare diseases including:
- Phenylketonuria (PKU)
- Urea cycle disorders
- Organic acidurias
- Mitochondrial disease
- Lysosomal storage disorders including mucopolysaccharidoses (MPS)
- Other disorders of carbohydrate, fat or amino acid metabolism
- Other recognised genetic metabolic disorders
Looking after pregnant mums with the metabolic condition PKU
The Royal Melbourne Hospital Metabolic Diseases Unit (MDU) has been looking after six mums who managed PKU (Phenylketonuria) through their pregnancies.