Evelina Centre for Inherited Metabolic Disease Service
We provide a clinical Inherited Metabolic Disease (IMD) service both for children and adults based at Evelina London Children’s Hospital. 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.
Phenylketonuria (PKU) is one of the most common metabolic diseases. Pregnant women with PKU should be referred by their GP if not already under the care of a metabolic specialist. This is because high phenylalanine levels disturb the development of the foetus and raised levels during pregnancy can cause microcephaly, mental retardation, congenital heart disease, spontaneous abortion, and low birth weight.
In collaboration with four major metabolic laboratories, the clinical IMD service provides 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, eg Medium Chain Acyl CoA enzyme dehydrogenase deficiency (MCADD)
- Mitochondrial disorders.
Please refer to:
Adult Metabolic Consultant
Fax 020 7188 8901
For more information please contact:
Joanna Gavin (Medical Secretary) Tel 020 7188 4004