Inherited Metabolic diseases


Age Range:

0-16yrs for children and then over 16’s are transitioned to our adult inherited metabolic service

The Service:

We are the regional inherited metabolic diseases service for South Thames including all of South London. We are one of the main IMD centres in the UK offering treatment to patients with all types of IMD. This includes procedures for diagnosis and acute and long-term management. We work closely with the children’s liver service and the adult neurology service at King’s College Hospital. IMD are a group of genetic, inherited disorders of the metabolism. They can lead to a dangerous imbalance of chemical in the body, ultimately resulting in organ damage and disabilities

Who is the service for?

The most common conditions we treat are:

  • Amino acid disorders, e.g. phenylketonuria(PKU), tyrosinaemia
  • Carbohydrate disorders, e.g. galactosaemia
  • Fatty acid oxidation defects, e.g. medium chain acyl CoA enzyme dehydrogenase deficiency (MCADD)
  • Glycogen storage disorders
  • Hypoglycaemia
  • Lipid disorders including familial hypercholesterolaemia
  • Lysosomal storage disorders (LSD’s)
  • Mitochondrial disorders
  • Organic acid disorders
  • Purine/pyrimidine disorders
  • Urea cycle disorders

Criteria for access to service

Child with suspected or diagnosed IMD needing diagnostics and or treatment

Accessibility of this service

Our building is fully accessible

How this is provided:

We carry out tests to diagnose patients and provide acute and long-term management of metabolic disorders

How can I access this service?

Please send your written referral by email:
Gst-tr.elchpaedmetabolicreferrals@nhs.net
Referrals are accepted from GPs or local consultants.

How is this service funded?

The service is commissioned by health

Do you need to pay for this service?

No

Useful to know

Outpatient appointments offered Monday to Friday 9am to 5pm
Clinics are held on level 0 – Ocean and our inpatients stay on Savannah ward (dragonfly zone). Day cases (a day long admission in a ward where special investigations take place) are held on level1 – Arctic. We are based at The Evelina Children’s Hospital, Westminster Bridge Road, SE1 7EH

Contact us

Tel: 020 7188 0848