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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 do not attend a specialist service to treat their condition.

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 IMD 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.

Conditions  

Our service includes procedures to diagnose patients and acute and long-term management of metabolic disorders. 

The most common conditions 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/pyrimidine disorders
  • urea cycle disorders.

Laboratories

Our centre 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.

Contacts

Appointment enquiries

Tel: 020 7188 4000

Email: PaediatricAppointment@gstt.nhs.uk

General enquiries

Tel: 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 level 1 – Arctic.

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