Inherited metabolic diseases

Genetic, inherited disorders of the metabolism 

About inherited metabolic diseases

Inherited metabolic diseases (IMD) are a group of genetic, inherited disorders of the metabolism.

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

In the UK, at least 600 babies are born with IMD every year. There are currently around 20,000 children and adults living with IMD in the UK, and half of those affected are not treated by a specialist service.

Our adult services (for over 16s) are based at St Thomas' Hospital. Find out more about what happens when you move from children's to adult inherited metabolic diseases services.

Our service

We are the regional IMD service for south Thames covering south London, Kent, Sussex, Surrey and beyond with outreach clinics as far as Plymouth, Cambridge and Norwich. Here, we see more than 300 new patients each year with over 200 admissions to the ward.

We have close links with all of the clinical services at Guy’s and St Thomas’, in particular the genetics department.

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.


We diagnose patients and support them with short and long-term management of metabolic disorders.

The most common conditions we treat include:

  • amino acid disorders, eg phenylketonuria (PKU), tyrosinaemia
  • carbohydrate disorders, eg galactosaemia
  • fatty acid oxidation defects, eg medium chain acyl CoA enzyme dehydrogenase deficiency (MCADD)
  • glycogen storage disorders
  • hypoglycaemia
  • lipid disorders including familial hypercholesterolaemia
  • lysosomal storage disorders (LSDs)
  • mitochondrial disorders
  • organic acid disorders 
  • purine and pyrimidine disorders
  • urea cycle disorders.


We're supported by 4 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


Appointment enquiries

Phone: 020 7188 4000


General enquiries

Phone: 020 7188 0848

How to find us

Evelina London Children's Hospital
Westminster Bridge Road
London SE1 7EH

How to get to Evelina London.

Our clinics are held on level 0 – Ocean.

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 Savannah ward and Snow Fox ward.