Inherited metabolic diseases

We offer a clinical inherited metabolic disease (IMD) service for both adults and children.

IMD represents a group of more than 600 inherited conditions due to disruption of a single or multiple metabolic pathway leading to a diverse range of clinical presentations.

Our service is supported by four metabolic laboratories with national and international reputations for research and innovation:

• General Metabolic and Newborn Screening
• Enzymology and Biochemical Genetics
• Purine Research
• Well-child Research Laboratory.

We provide diagnostic procedures in addition to acute and long-term management of patients with a metabolic disorder. The most common conditions include:

• amino acid disorders, eg. phenylketonuria (PKU) and urea cycle disorders
• carbohydrate disorders
• organic acid disorders
• glycogen storage disorders
• lysosomal storage disorders (LSDs), eg Gaucher disease, Fabry disease, Mucopolysaccharidosis 1 (MPS1)
• purine/pyrimidine disorders
• fatty acid oxidation defects
• mitochondrial disorders.