Children’s metabolic service London

Inherited metabolic diseases (IMDs) are a large group of genetic diseases involving disorders of metabolism. Metabolic diseases can affect any age group, we see patients from birth throughout childhood and into adulthood.

We care for children with a wide range of conditions such as phenylketonuria, lipid disorders, glycogen storage disorders, galactosaemia, tyrosinaemia and mitochondrial disorders.

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. Our expert metabolic consultants offer care for general metabolic medicine as well as complex metabolic conditions and are sub-specialists in several fields. As part of a large multi-disciplinary team, our consultants work with clinicians in different teams to provide integrated care for young patients with IMDs.

We work closely with all of our clinical services at Guy’s and St Thomas’, in particular our genetics service, paediatric liver service and collaborate in the area of metabolic liver disease and liver transplantation.

We are supported by four metabolic laboratories with national and international reputations for research and innovation and are able to provide rapid diagnoses:

• general metabolic and newborn screening
• enzymology and biochemical genetics
• purine research
• well-child research laboratory.

Evelina London is located at St Thomas’ Hospital offering a seamless transition to our adult metabolic service.

Diagnosis of inherited metabolic disorders

The majority of metabolic diseases are due to a defective single gene that results in enzyme deficiency or it is in a form that doesn’t work. 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.

Metabolism refers to all the chemical reactions taking place in the body to convert or use energy. Inherited metabolic disorders are present at birth and 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.

Metabolic conditions and treatments

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

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

We provide care for a range of conditions including:

• 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.

Treatment of inherited metabolic disorders

Our consultants provide treatment tailored to your child and linking closely with other clinical teams. Treatment is dependent on the condition including:

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