Guy's and St. Thomas' NHS Foundation Trust, London

Guy's and St. Thomas' NHS Foundation Trust, London

20 St Thomas St,

London SE1 9RS,

United Kingdom

Paediatric Metabolic Medicine

Paediatric Metabolic Medicine

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.


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 Portsmouth, 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.




Our service includes procedures to diagnose patients and acute and long-term management of metabolic disorders. The most common conditions include: 


  • 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 (LSDs)
  • mitochondrial disorders
  • organic acid disorders
  • purine/pyrimidine disorders
  • urea cycle disorders.




Our centre is supported by four metabolic laboratories with national and international reputations for research and innovation: 


  • General metaboli
  • Regional Newborn screening
  • Enzymology and Biochemical Genetics
  • Purine research laboratory
  • WellChild research laboratory
  • Metabolic clinic  Phenylketonuria (PKU) clinic
  • Lipid clinic
  • Glycogen storage disease (GSD) clinic
  • Metabolic liver clinic
  • Neurometabolic clinic
  • Adult metabolic clinics


Transition to adult inherited metabolic diseases service


The move from the children's to the adult inherited metabolic diseases IMD service is a gradual process. From the age of 14 years a patient is slowly introduced to the adult inherited metabolic disease service and attends transition at Evelina London. Patients will have four appointments over the two-year period between 14-16 years old. At the last appointment patients will be shown where the adult IMD clinic is, at Gassiot House, St Thomas' Hospital. At the first two clinic appointments patients see staff from the children's IMD team while at the last two appointments; they see both the children's and adult teams.


When the transition process begins, we work with the patient to set some goals that they want to achieve. At each appointment we will talk through these goals with the patient and how they think they're doing.


During the first two clinic visits, parents/guardians will be invited to come along to the appointments, but patients will also be given the opportunity to see us on their own. During the last two visits, we ask patients to see us without their parent/guardian to help them become more independent.


This position would provide the opportunity to spend time with the adult metabolic team.

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