Sheffield Diagnostics Service: www.sdgs.org.uk
Sheffield has a highly skilled multidisciplinary team of professionals working together to provide the best diagnostic facilities and care for patients. Prof Jim Bonham is head of the laboratory service and has more than thirty years experience in the field of inborn errors of metabolism. He currently leads a number of relevant national and international groups providing services in this area. Dr Mark Sharrard and Prof Sufin Yap have extensive experience in Sheffield and overseas and Dr Sharrard currently leads the newly formed East Midlands/South Yorkshire IMD Network.
The Department of Paediatric Metabolic Medicine is the principal provider of specialist child metabolic medicine services, both emergency and elective, for London (North of the Thames) and the surrounding counties. The Department also provides a national and international service for the management of rare and complex paediatric metabolic conditions. It is one of three designated nationally commissioned NHS specialised services for the management of children with lysosomal storage diseases.
The IMD Service was officially launched in December 2008 and consists of a multidisciplinary team lead by consultants in IMD, metabolic dieticians and nurse specialists. The IMD service is fully supported by other specialities including heart, liver, kidney, neurology, genetics and rehabilitation services.
The adult metabolic service is also closely linked to Birmingham Children’s Hospital (BCH) metabolic unit and is based at the Queen Elizabeth Hospital.
Cardiff and Vale UHB Departments of Child Health and Biochemistry provide a clinical service for the diagnosis, assessment and treatment of adult and paediatric patients with Inherited Metabolic diseases and Lysosomal storage disorders.
The Inherited Metabolic and Lysosomal Disease Service consists of a Lead Clinician (Paediatrician), Adult Consultant, Consultant Biochemist, Nurse Specialist, Specialist Pharmacist, Dietician, Psychologist, Physiotherapist and support services covering all patients who live in mid, east, south & west Wales.
The Department of Biochemistry and Immunology at the University Hospital of Wales (UHW) provide specialist metabolic laboratory services. These laboratories provide a wide range of specialist investigations and screening, as well as a diagnostic advisory service for other clinicians and biochemistry departments in Wales. Specialist investigations not carried out by the Biochemistry Department at UHW are sent to specialist centres across the UK and worldwide
The department provides a service for children and young people – throughout the North West and beyond – with inherited metabolic disease. The MMC also provides accredited laboratory services, with Mr Alan Cooper as the head of the laboratory.
Close integration of laboratory investigation and clinical management within the unit has led to the development of a unique service aimed at the early diagnosis and appropriate management of affected children.