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The South West Regional Metabolic Department based at the Bristol Royal Hospital for Children is one of five national Paediatric Specialist Centres. We provide comprehensive high quality multidisciplinary care to children and their families affected by metabolic disease across the South West.

The team

Consultants: Dr Germaine Pierre and Dr Effie Chronopoulou                                 

Specialist nurses: Gillian Alexander, Bethan Clinton, Chloe Poole, Katie Raven, Samantha Mather and Anja Keating           

Specialist dietitians: Camille Newby, Abbie Robotham, Georgina Dunning and Victoria Wilkins   

Specialist pharmacist: Sam Whiting

We work closely with the specialist biochemists based in laboratories at UHBW and NBT: Luke Hibberd (UHBW) Rebecca Hopkins (UHBW), Dr Victoria Warburton (UHBW), Maryam Khan, Emma Smith, Dr Helena Kemp (NBT).

The service 

We see patients from 0-16 years with suspected or diagnosed metabolic disease including those identified from newborn screening.

Clinics we offer:

  • Weekly clinics in Bristol which include multidisciplinary consultant led clinics, dietetic clinics and nurse led clinics.
  • Outreach multidisciplinary clinics in Truro, Plymouth, Exeter, Taunton and Bath.
  • A transition clinic and service to support the transfer of older children to adult services.

Mondays to Fridays 9am to 5pm, the on call consultant manages acute admissions to the paediatric wards, NICU or PICU and transfers from other hospitals. They carry the on call mobile phone for clinical advice and management. Specialist nurses and specialist dietitians also provide telephone support for patients and telephone advice to other professionals.

Out of hours on weekdays and weekends a metabolic consultant is on call for provision of specialist advice

 

We treat rare inherited metabolic disorders. Some conditions need special diets and emergency management plans during even minor illness.

  • Phenylketonuria (PKU)
  • Medium-chain acyl CoA dehydrogenase deficiency (MCADD) and other fatty acid oxidation disorders
  • Maple syrup urine disease (MSUD), propionic acidaemia and  other organic acidaemias
  • Homocystinuria
  • Urea cycle disorders such as OTC (Ornithine transcarbamylase deficiency)
  • Glycogen storage diseases
  • Galactosaemia
  • Lipid disorders, including hypercholesterolaemia, hypertriglyceridaemia
  • Zellwegers and other Peroxisomal disorders
  • Mitochondrial disorders and other neurometabolic disorders
  • Lysosomal storage disorders (in conjunction with lysosomal storage disease centres)

If you would like any further information please contact:

General Metabolic Enquiries

  • Metabolic Secretary: 0117 342 1694        
  • Bristol Appointments: 0117 342 7955

Specialist Nurse: Urgent 07867 644634 (Monday to Friday, 9am to 5pm) Non-urgent 0117 342 6260 Email: metaboliccnspatientsupport@uhbw.nhs.uk

Specialist Dietitian: Urgent 07795 684774 (Monday to Friday, 9am to 5pm) Non-urgent paedmetabolicdietitians@uhbw.nhs.uk

Specialist metabolic biochemists:

  • North Bristol NHS Trust - 0117 414 8346
  • UHBW - 0117 342 2590

Out of hours, weekends, bank holidays

UHBW Switchboard: 0117 923 0000

Ask to speak to Paediatric Speciality Registrar for Metabolic Medicine (Bleep 6734).

Please ask the registrar to seek advice from the on call Metabolic Consultant.

If you are concerned that your child is unwell and needs urgent medical advice, please take them to hospital for management.

Most referrals are by hospital consultants and community paediatricians.

Please write to us at

South West Regional Metabolic Department

Paediatric Metabolic Consultant

Bristol Royal Hospital for Children

Division of Women's and Children's services

Level 6

UHBT, Education Centre

Upper Maudlin Street

Bristol, BS2 8AE

Clinical guidelines

Metabolic charities and support networks

How to Perform a Heel Prick Bloodspot Test

This video will guide you on how to perform a heel prick blood spot for PKU and HCU monitoring. (Link opens in YouTube.)

Heel

How to Perform a Finger Prick Blood Spot Test

This video will guide you on how to perform a finger prick blood spot for PKU and HCU monitoring.

Finger

How to perform a Blood Glucose Test

This video will guide you on how to perform a blood glucose level as part of your child's monitoring.

Glucose

How to Perform a Blood Glucose & Ketone Test

This video will guide you on how to perform a blood glucose and blood ketone level as part of your child's monitoring.

Ketone

Newborn blood spot test

The newborn blood spot test involves taking a small sample of your baby's blood to check it for 9 rare but serious health conditions.

When your baby is about 5 days old, a healthcare professional will prick your baby's heel and collect a few drops of blood on a special card. This is sent off for testing.

Conditions which can be picked up from newborn screening include six inherited metabolic conditions:

  • Phenylketonuria (PKU)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Maple syrup urine disease (MSUD)
  • Isovaleric avidaemia (IVA)
  • Glutaric aciduria type 1 (GA1)
  • Homocystinuria (HCU)

Other conditions screened include:

  • Cystic fibrosis
  • Congenital hypothyroidism Sickle cell disease
  • Sickle cell disease

For more information visit:  https://www.nhs.uk/conditions/baby/newborn-screening/overview