Inherited Metabolic Disease Service

Sheffield Children’s Inherited Metabolic Disease Service

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.

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.

Conditions we treat

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

• Amino acid disorders including phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria (HCU), non-ketotic hyperglycinaemia (NKH)
• Urea cycle disorders
• Organic acidaemias including propionic, methylmalonic and isovaleric acidaemia
• Fatty acid oxidation disorders, including MCAD deficiency, and carnitine disorders
• Carbohydrate disorders including glycogen storage diseases and galactosaemia
• Lipid disorders including hypercholesterolemia and hypertriglyceridaemia
• Peroxisomal disorders including X-linked adrenoleukodystrophy
• Mitochondrial disorders and inherited vitamin response disorders

Treating children and young people

Outpatients

We see children in outpatient clinics at Sheffield Children’s Hospital. Here, children and young people get support from play specialists, growth and measurement professionals, and highly experienced children’s phlebotomists (people who are trained to take blood samples) to create a smooth clinic experience for a families from start to finish.

We have regular general metabolic clinics alongside separate clinics for lipid disorders, MCADD, PKU, and transition clinics for young people who will soon move to adult health services.

Inpatients

We provide regular specialist input for children who have, or are under investigation for, metabolic disorders when they are staying on a hospital ward or visiting a daycare unit. We also provide care for children we care for when they are admitted to their local hospital.

Satellite clinics

Our consultants provide face-to-face and remote metabolic support to the East Midlands Network based in Nottingham and Leicester. We have close liaison with the Lysosomal Storage Disease service in Manchester.

Out of hours

We share an out of hours on call service with Manchester Children’s Hospital to make sure children and families have access to 24/7 care.

What to expect when you are referred to a metabolic clinic

After referral from your GP or paediatrician, we will send you a date and time to come for an appointment at the outpatients department of Sheffield Children’s Hospital. For more information about the outpatients departments please follow visit our Outpatients webpages.

Your child will have their weight and height or length measured before being called into clinic. Please make sure you arrive at least 15 minutes before your appointment time to allow for this.

If this is your first appointment, we will ask you about your child’s past medical history and what brought them to metabolic clinic. Usually, a specialist nurse and dietitian will also be at the appointment. As we are a teaching hospital you may come across healthcare students and resident doctors, and we will ask you if you are happy for them to join your appointment. Your child may need a blood test or a urine sample to be taken after the appointment.

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 to design new forms of treatment and to help make sure that children with these metabolic conditions are recognised and treated as early as possible. Members of our team regularly present at national and international conferences to share this research and experience with other centres so that more children can be helped.

What is 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, health professionals identified conditions that resulted in severe developmental delay caused by inherited disorders of metabolism. One of the first was phenylketonuria (PKU). Almost 40 years later screening was introduced for every baby born in the UK to identify and treat each case before damage occurred.

Since then, countless more inherited metabolic diseases have been identified. There are national and international working groups that help further research and awareness of these conditions so that people can be diagnosed and treated as early as possible.

Transition to adult health services 

Transition is the process where young people begin to move from children’s health services to adult health services. It typically happens between the age of 16 and 17 but the process of preparing for the adult service can begin from 14 years old. We tailor each transition to the needs of each individual young person to provide a structured and well supported plan. We offer regular ‘transition’ style appointments to support young people to become more confident in managing their condition independently and consider elements of adulthood that are not always discussed in a children’s clinic appointment.

At the time of transition, patients will have the opportunity to meet the adult metabolic team (if transitioning to Sheffield adult services) within an appointment at Sheffield Children’s Hospital. This allows for a smooth handover to the adult team.

Team contact details

Referrals

We accept referrals written from a healthcare professional. The referral should be addressed and sent in the post to:

Metabolic Medicine Consultants

Sheffield Children’s Hospital
Western Bank
Sheffield 
S10 2TH

Referrals for lipid patients can be sent directly to the Metabolic Nurses via email:
scn-tr.sheffieldmetabolicnurses@nhs.net

Useful links

Metabolic Support UK – A leading inherited metabolic disorders charity that provides valuable support for over 40,000 people worldwide in the form of peer groups, annual conferences, blogs, webinars, and much more.

British Inherited Metabolic Disease Group – The UK’s group for education, collaboration, meetings, workshops and emergency guides for the treatment of metabolic disease. Their main objectives are to advance the research and improve the care of patients with inherited metabolic disorders.

HEART UK – The Cholesterol Charity – The UKs leading charity for education and support for people with high levels of blood cholesterol and lipid disorders.   

The Lily Foundation.org.uk – The Lily Foundation are pioneers in raising awareness and promoting research of mitochondrial diseases whilst offering support and advice to affected children, young people and their families.

The Campbell Burns Metabolic Trust – A UK charity that provides financial support and experiences for families of children aged 10 years and under with inherited metabolic disorders.