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