Our metabolic service is supported by laboratories with international acclaim for leading research and innovation.

We’re here to help

Call us today on 020 7188 5197
or send us an email

Call us today on 020 7188 5197 or go to our online enquiry form

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.

Get in touch to find out more:

Tel: 020 7188 4004

Make an enquiry with metabolic medicine: