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 Inherited Metabolic & Lysosomal Disease Service is available to adult and paediatric physicians, laboratory staff and other health care professionals who have contact with these patients throughout Wales.
The service also provides education, support and advice to patients, families, carers and other members of the social / healthcare team, such as school teachers
Metabolic Resource Office
University Hospital of Wales
UHW Switchboard: 029 2074 7747
Secretary: 029 2074 3275
Fax: 029 2074 6317