Evelina London Children’s Hospital is a leading paediatric metabolic medicine centre in the UK, offering treatment to patients with all types of metabolic disorders (genetic conditions that disrupt metabolism from birth).

Our metabolic specialists offer care for children of all ages, in both general metabolic medicine as well as complex metabolic conditions. This includes children with phenylketonuria, lipid disorders, glycogen storage disorders, galactosaemia, tyrosinaemia and mitochondrial disorders.

Our specialists work closely with other departments at our hospitals, such as our genetics and children’s liver services, as part of our multidisciplinary approach to care. If needed, they will work with our liver transplantation unit to best support our patients.

As Evelina London is located at St Thomas’ Hospital, we offer a seamless transition to our adult metabolic service, ensuring continued care.

Experts in children's metabolic conditions

There are many different genetic metabolic disorders and their symptoms, treatments and prognosis varies widely.

Our service includes diagnosis from experienced specialists, as well as acute and long-term management of metabolic disorders.

We provide care for a range of conditions, 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
  • hypoglycaemia
  • lipid disorders including familial hypercholesterolaemia
  • lysosomal storage disorders (LSDs)
  • mitochondrial disorders
  • organic acid disorders
  • purine and pyrimidine disorders
  • urea cycle disorders
Dad cuddling with baby son

Treatment of inherited metabolic disorders

Our specialists provide treatment tailored to your child and linking closely with other clinical teams.

Treatment is dependent on the condition and can include:

  • dietary intervention – reduce or eliminate intake of any food or substances that can’t be metabolised properly
  • enzyme replacement therapy
  • medications
  • organ transplantation
  • supportive management

Diagnosis of inherited metabolic disorders

Metabolism refers to all the chemical reactions taking place in the body to convert or use energy.

The majority of metabolic diseases are due to a defective single gene that results in an enzyme deficiency. This can lead to a dangerous imbalance of chemicals in the body, resulting in a build up of toxic chemicals ultimately resulting in organ damage and disabilities, if left untreated.

As inherited metabolic disorders are present at birth, some are detected by routine screening. If symptoms appear later in life, we offer a range of tests to accurately diagnose metabolic disorders including blood tests, genetic testing, imaging and functional tests using tissue biopsies.

Innovative genetic testing facilities

We are supported by 4 metabolic laboratories with national and international reputations for research and innovation, enabling rapid diagnosis:

  • Enzymology and biochemical genetics.
  • General metabolic and newborn screening.
  • Purine research.
  • Well-child research laboratory.


Genetics lab scientist working

Discover our children's metabolic medicine experts

As part of a large multi-disciplinary team, our specialists work with clinicians in different teams to provide integrated care for young patients with metabolic disorders