University Hospitals Bristol NHS TRUST, Bristol Children’s Hospital

Bristol, UK

Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network

The Metabolic Medicine Service at Bristol is the principal provider of specialist child metabolic medicine services, both emergency and elective, for the Southwest of England.
The service provides a national service for the management of rare and complex paediatric metabolic conditions. We see patients from O-IS years with suspected or diagnosed metabolic disease.
The Clinical Biochemistry department at Bristol is one of the UK newborn screening centres. The Metabolic Medicine Department provides the foiiow-up care of patients identified by the national neonatal screening programmes (currently including: phenylketonuria (PKU), medium chain acyl-CoA dehydrogenase (MCADD) deficiency, Homocystinuria (HCU), MSUD, IVA and the metabolic biochemistry laboratory participates in the European (ERNDIM)( and the UK quality assurance programme United Kingdom National External Quality Assessment Service (UK NEQAS) (
The Metabolic team sees a vast number of inborn errors of metabolism and runs clinics for these patients which are held in the Royal London Hospital for Integrated medicine (formerly the Royal London Homeopathic Hospital |(RLHH)). Phlebotomy services are also provided. Disease specific clinics are offered for PKU, MCADD deficiency, and LSD joint clinics with the dedicated LSD team from Manchester, Diagnostic and treatment services for entire range of Metabolic Disorders including:

  • Aminoacid and organic acids related disorders
  • Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders,
  • Disorders of thiamine transport and metabolism
  • Carbohydrate, fatty acid oxidation and ketone bodies disorders
  • Lysosomal disorders (working with a nationally commissioned metabolic centre, namely GOSH, Manchester or Birmingham)
  • Peroxisomal and lipid related disorders
  • Congenital disorders of giycosyiation and disorders of intracellular trafficking
  • Other metabolic disorders

24/7 cover for emergency advice and care
Research facilities for interventionl and noninterventionai studies
Networking with other centres of expertise within the UK and Europe – EIMD, BIMDG, SSIEM


We provide a 24-hr on call service for paediatric metabolic disorders that accepts referrals from the SW of England.
We have inpatients and clinics and work closely with our Paediatric Intensive Care Unit (PICU) and our Neonatal Intensive Care Unit (NICU).
Haemofiltration is readily available should it be required on our PICU. Babies are transferred accorning to clinical need via air or land to Bristol as dictated by their clinical satus.
We have a heavy outpatient clinic workload and also provide outreach clinics in the area on aregular basis.
These include metabolic clinics at the local district hospitals in the SW of England, namely Taunton, Bath, Exeter, Plymouth and Cornwall. We provide a specialist LSD joint clinic with the paediatric metabolic team from Manchester every 3 months.
We have 3 teleconference meetings with the Newcastle and Oxford mitochonrial teams to discuss all our mitochondrial patients.
We offer bone marrow transplantation and renal transplantation.
Symptomatic management from multidisciplinary team including physiotherapy, occupational therapy, speech and language therapy.
Multispeciallty input as required including neurology, neurosurgery, general surgery, orthopaedics, cardiology, endocrinology, respiratory, gastroenterology etc.
The provision of palliative care services is well incorporated into our practice and children benefit for excellent hospices in the area and a great team who works closely with us from the time of diagnosis. In this way, the best end of life place is agreed between the medical team and the parents with a full end of life plan, known as the “Wishes” Document. The feedback from families who unfortunately lost their children about these places of retreat and comfort has been excellent.
We offer a full local diagnostic service for metabolic disorders including neurotransmitter disorders and muscle biopsies for mitochondrial diosrders.
We are part of the national newborn screening programme and offer a full diagnostic and clinical sevice to all newborns in the area as per the UK National Screening Guidelines Social care services are easily accessible both in the hospital and community setting as is the case for all children in England. Social Care plays a major role in metabolic disorders as funding can be sourced appropriately to help these families and patients enjoy a good quality of life.
Our designated specialist nursing team performs diagnsotic fasts as clinically indicated. We offer in hospital ERT for newly diagnosed patients prior to them receiving it at home.

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    Efstathia Chronopoulou

    University Hospitals Bristol NHS TRUST, Bristol Children’s Hospital