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

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

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