Overview

We treat adults with inherited metabolic diseases (IMD). This is a group of more than 750 conditions that are genetic, inherited problems of the metabolism.

They can lead to a dangerous imbalance of chemicals in the body and cause organ damage and disabilities.

We work closely with the IMD team at Evelina London, our children's hospital. We are based at the same site and this helps our patients make the move to adult services.

We offer investigation and management for IMDs, including:

• amino acid disorders, such as phenylketonuria (PKU) and tyrosinaemia
• carbohydrate disorders, such as galactosaemia
• fatty acid oxidation defects, such as medium chain acyl CoA enzyme
• dehydrogenase deficiency (MCADD)
• glycogen storage disorders
• low blood sugar (hypoglycaemia)
• lysosomal storage disorders (LSDs)
• mitochondrial disorders
• organic acid disorders
• purine/pyrimidine disorders
• urea cycle disorders
• fish odour syndrome

Health information

Information and support for IMD patients:

• Collecting blood for a blood spot card
• Metabolic Support UK
• National Society of Phenylketonuria (NSPKU)

Our consultants

Radha Ramachandran, clinical lead for adult inherited metabolic diseases

Research and clinical trials

Research is vital to improving the care that you receive when you're unwell. You can help improve healthcare by taking part in research studies at our Trust. During your appointment, ask your healthcare professional about research. They'll be happy to tell you about research studies you could be eligible to join.