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.

Children’s metabolic service

Comprehensive management of metabolic diseases including diagnosis, procedures and acute and long-term management

Find out more

Make an enquiry with metabolic medicine: