Inherited Metabolic Disease Service

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Inherited Metabolic Disease Service

IMD Team

Dr Mark Sharrard – Metabolic Consultant
Professor Sufin Yap – Metabolic Consultant
Camilla Scott – Director of Newborn Screening and Head of Clinical Chemistry
Dr Lynette Shakespeare – Deputy Directory of Newborn Screening
Dr Simon Olpin – Consultant Clinical Scientist
Dr Jane Dalley – Lead Clinical Scientist, Metabolics
Joanne Croft – Lead Clinical Scientist, Tissue Culture
Dr Richard Kirk – Lead Scientist for Molecular Genetics
Lucy White – Specialist Metabolic Dietitian
Heather Allen – Specialist Metabolic Dietitian
Claire Mizler – Metabolic Nurse
Technical and administrative staff

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

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.