Children’s Metabolic Service

The East Midland’s Paediatric Metabolic Service provides care for Children and Young People with a variety of diagnosed and undiagnosed inherited metabolic disorders.  Working in partnership, the Nottingham and Leicester metabolic services have collaborated in order to provide excellent care to children and young people living in the East Midland’s with a metabolic condition. Below is a list of some of the conditions we manage within the metabolic service:


  • Phenylketonuria (PKU)
  • Hyperphenylalaninemia
  • Tyrosinemia
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
  • Ornithine Transcarbamylase Deficiency (OTC)
  • Methylmalonic Aciduria (MMA)
  • Glutaric Aciduria
  • Galactosemia 
  • Ketolytic disorders
  • Trimethylaminuria
  • Mitochondrial disorders
  • Homocystinuria (HCU)
  • Familial Hypercholesterolaemia (FH)


The Nottingham site oversees the diagnosis and management of patients across Nottingham City, Nottinghamshire, Mansfield, Derby, Derbyshire, Lincoln and Lincolnshire with a variety of inherited metabolic disorders aged from 0-18 years of age.

Members of the Metabolic Team

Metabolic Consultants

Dr Isaque Qureshi - Consultant Paediatrician

Dr Nehali Dal – Consultant Paediatrician

Dr Sarah Hulley - Consultant Paediatrician


Metabolic Clinical Scientists

Dr Donna Fullerton - Consultant Clinical Scientist

Jennie Freestone - Senior Clinical Scientist


Metabolic Nursing Team

Helen Thurman – Paediatric Metabolic Nurse Specialist

Caroline Saddington – Paediatric Metabolic Nurse Specialist

Hayley Cook - Paediatric Metabolic Nurse Specialist


Metabolic Dietetic Team

Giana De Sousa- Lead Paediatric Metabolic Dietician

Hannah Baker - Paediatric Metabolic Dietitian

Megha Shah - Paediatric Metabolic Dietitian

Kate Madocks Wright – Paediatric Metabolic Dietitian

Katie Tague – Metabolic Dietetic Technician

Julia Ashworth – Metabolic Dietetic Technician


Metabolic Admin Team

Bradley Butler - Speciality Personal Assistant

Sharon Thomas – Speciality Personal Assistant

Philippa Letts - Patient Pathway Administrator


Metabolic Pharmacist

Katherine Murrish – Metabolic Clinical Pharmacist


Metabolic Social Worker

Rachael Jones - Paediatric Metabolic Social Worker


Metabolic Psychologist

Susan Lawton - Metabolic Psychologist


Regional Team

Emma Buckley – Regional Lead Nurse, East Midland’s Paediatric Metabolic Service

John Taylor – Regional Network Co-ordinator, East Midland’s Paediatric Metabolic Service

Contact Us

To contact the Nottingham Children’s Metabolic Service, please call 0115 924 9924 followed by the extension number you require:

  • Metabolic Nurses Ext: 85405 or Direct line (0115 849 3346)
  • Metabolic Dietitians Ext: 85202
  • Metabolic Admin Ext: 88917

Nottingham Metabolic Team Email:

Treating Our Patients


Patients are invited to clinics at either Childrens Clinic South or Childrens Clinic East at the Queens Medical Centre. The frequency of patient appointments are determined by the metabolic condition. Clinics appointments with the Metabolic Nurse Specialists or Metabolic Dietitians can be arranged for more targeted support.


Remote Care:

We aim to manage the majority of our patient’s symptoms and wellbeing remotely.  Where necessary, patients are provided with emergency regimes, so that should they become unwell at home they can be supported to stay at home with regular contact with the metabolic team.


What should I do if my child is unwell?

Non-Urgent Advice

If your child has an emergency regime, it is important that you always follow it during times of illness. For non-urgent advice during working hours, Monday to Friday 8am – 4pm, please contact the metabolic team on the above numbers. Outside of this time, for non-urgent advice please call the hospital switchboard and ask to speak to the children’s medical registrar. They will ask for some details about the child or young person’s condition in order to provide advice, or to seek specialist advice for you.

Emergency Help

If you are concerned about your child at any time, please attend your local hospital Emergency Department. In an emergency, you should call 999 for an ambulance, and tell the operator that your child has a metabolic condition. Always start your child’s emergency regime if they have one.



Transition is a gradual process that gives the young person and everyone involved in their care time to get ready to move to adult services. The young person’s changing healthcare needs as they enter the world of adulthood will be discussed. We recognise that all young people are different, and so will be ready to transition at different ages. Patients are able to transition to adult services from the age of 16. Our patients frequently transition to adult services either at the Queen Elizabeth Hospital (Birmingham) or the Northern General Hospital (Sheffield) and we offer support throughout this process. If the young person is moving out of the area to pursue a career or further study, they can have their care transitioned to a centre closer to where they will be living.


New Referrals:

Patient referrals should be written from a medical professional, such as a General Practitioner (GP) or Paediatrician.

The referral should be addressed to Dr Isaque Qureshi and either:

  • Posted to:     

                            Secretary of Dr Isaque Qureshi

                            Room C3089A, Floor C (South Block)

                            Nottingham University Hospitals NHS Trust

                            Queens Medical Centre

                            NG7 2UH



  • For Familial Hypercholesterolemia (FH) referrals please refer via email address above.

Further Support

Youth Team –Nottingham Children’s Hospital offers an award-winning youth service providing community education and fun for children and young people aged 11-21 living with long-term health conditions. They run weekly youth clubs, excursions and activities, AQA qualifications and much more. We are able to refer our metabolic patients to the youth team if they would like to get involved. For more information please visit the following link or contact the metabolic nursing team to discuss this further.


Holidays or Travel – We recommend that patients take supplies of feeds and medication with them when travelling on holiday, you may need to order additional supplies before travelling. The metabolic team can provide holiday travel letters and additional Emergency Regimes for children and young people who are travelling abroad. Where appropriate, we can provide translated copies of these documents, however these documents can take 8 weeks to prepare so please contact us early to avoid any delay. Patient’s should always consider arranging independent travel insurance before any travel.

Refund of Travel Costs - Refund of Travel Costs | NUH


Support for schools and nurseries:

The metabolic team recognises the importance of your child receiving the best possible care in all areas of their life. The metabolic team can provide education to the teachers and staff at your child’s school to ensure that they are able to meet your child’s healthcare needs.  Where appropriate, healthcare plans are provided to support patients to be able to attend Nursery, School and College alongside their peers. Please discuss this with the metabolic nurses if you think this would be appropriate for your child or young person.


We welcome feedback from all of our service users in order to continue to improve the East Midland’s Paediatric Metabolic Service.

Information of how to provide feedback based on your experience with our service can be found via this link:

Alternatively you may email the metabolic team directly via:

Charities and Support Groups

Metabolic Support UKOne of the leading IMD charities providing support, advice, peer groups, patient stories, blogs and webinars to thousands of patients worldwide.

The Campbell Burns Metabolic Trust – Provides a variety of support for families of children under 10 years old with an IMD. This includes financial support and recreational activities for children and their families.

British Inherited Metabolic Disease Group - Meetings, workshops, education, membership and emergency guides for metabolic diseases. They aim to improve care for metabolic disorders through research and policy change.

National Organization for Rare Disorders (NORD) – NORD offers information, resources and access to support groups for a variety of metabolic disorders, including: MCADD, PKU, MSUD, Galactosaemia, GSD, Organic acidemias and CGD.

Galactosaemia Support Group – Provides opportunities to connect with other patients and families affected by Galactosaemia.

National Society for Phenylketonuria -  National charity for people living with PKU. They offer support, community, advocacy and research surrounding PKU.

Association for Glycogen Storage Disease UK – Offers support, fundraisers, publish a magazine, access to conferences, patient stories and information about Glycogen Storage Disease.

British Heart Foundation - Fund approximately £100 million of research into heart, circulatory and metabolic disorders.

Cure and Action for Tay-Sachs Foundation. They provide families with a variety of support including respite, equipment, funeral grants, and a network connecting families. They have an app which includes information on symptom management, the disease and care advice.

Save Babies Through Screening Foundation - Advocating for the comprehensive screening of all new-borns. They offer advice and support to pregnant families and families receiving positive screenings and diagnoses.

National MPS society – Provide support for families affected by 1 of the 25 mucopolysaccharide diseases. They offer video call advocacy clinics, befriending support clinics, events, sibling support, respite care, palliative care, counselling & mindfulness courses.

The Batten Disease Family Association – Offers guidance and support to families, educational training for schools, liase with battern disease specialists, provide workshops for families, connect families together to support eachother and provide small grants to families of children or young people living with Battern disease.

Gauchers Association – support families affected by Gaucher Disease, they offer patient and family advocacy service, counselling services and support work. They also offer a membership service.

NPUK – provide support and information about Niemann-Pick diseases, offer a 24-hour help line, an annual family conference and the opportunity for families to connect. - The Lily Foundation offer support and advice to children, young people and their families with Mitochondrial Disorders.