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Inherited Metabolic Disease Service

staff in laboratory

Our Inherited Metabolic Disease (IMD) Service provides treatment for babies and children with a wide range of metabolic disorders.

While individually rare, collectively these diseases are a common cause of admission to hospital in childhood. Our well-organised and effective clinical services are a huge benefit for affected children and their families.

About metabolic disease

Our metabolism allows us to produce energy from our food which helps our bodies to grow and develop. Anything that disturbs this process can have serious and far-reaching consequences for a baby or growing child.

In the 1930s conditions began to be described that resulted in severe developmental delay caused by inherited disorders of metabolism. One of the first was PKU (phenylketonuria) and almost 40 years later ‘screening’ was introduced for every baby born in the UK to identify and treat each case before damage occurred.

This provided a model for other conditions and was one of the pioneering advances of medicine in the 20th century.

Conditions we treat

Some of the conditions we treat are very rare and complex and include:

  • aminoacidopathies including: phenylketonuria, maple syrup urine disease, homocystinuria, non-ketotic hyperglycinaemia
  • urea cycle disorders
  • organic acidaemias, including propionic, methylmalonic and isovaleric acidaemias
  • fatty acid oxidation disorders, including MCAD deficiency
  • long chain and carnitine disorders
  • carbohydrate disorders, including glycogen storage diseases, galactosaemia
  • lipid disorders, including hypercholesterolemia, hypertriglyceridaemia
  • peroxisomal disorders, including X-linked adrenoleukodystrophy
  • mitochondrial disorders and inherited vitamin response disorders

Treating patients

We see our patients in outpatient clinics at Sheffield Children’s Hospital and other regional hospitals. We have separate clinics for phenylketonuria (monthly), lipid disorders (quarterly) and metabolic disorders (weekly).

We also treat patients on our wards, in daycare or on the Intensive Care Unit if necessary.


Sheffield Children’s NHS Foundation Trust has played a key role in the development and the evolution of these services and is still leading several national initiatives to diagnose and treat these patients including the recent Expanded Newborn Screening Pilot which successfully introduced several new tests into the national screening programme.

By bringing together screening, diagnostics, treatment and genetic services into one site, we can co-ordinate the recognition and treatment of these challenging and important conditions.

Current and future work

Metabolic disease is one of the growth areas of modern medicine and new disorders are discovered each year alongside new and more effective treatments.

We are active in several areas of research to ensure that patients are recognised and treated as early as possible and to design new and exciting forms of treatment.

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