Detailed guidelines for immediate emergency management of acute metabolic conditions can be found on the British Inherited Metabolic Disease Group (BIMDG) (opens in new tab) website. These guidelines are applicable to most patients but please note that the Metabolic Consultants wish to encourage medical contact. There will be occasions when alternative management is appropriate in consultation with a tertiary metabolic centre.
Genetic Alliance UK (opens in new tab) is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. They run two long standing projects - Rare Disease UK (opens in new tab), a campaign focused on making sure the UK Rare Disease Framework is as successful as possible, and SWAN UK (opens in new tab), the only dedicated support network in the UK for families affected by a syndrome without a name.
New genetic and genomic technologies enable us to develop a much more detailed understanding of the link between our genes and health. In recent years there has been international recognition that these technologies have the potential to revolutionise medicine and public health. Genomics Partnership Wales (opens in new tab), along with its partners and stakeholders, is working to harness the potential of genomics to improve the health, wellbeing and prosperity of the people of Wales.
The NHS Highly Specialised Services for Rare Mitochondrial Disorders provide a comprehensive high quality service for this rare group of disorders, with centres in London, Newcastle and Oxford. Each centre has international reputation for clinical care and research in Mitochondrial Disorders, and has expert teams of doctors and other healthcare professionals. The NHS Rare Mitochondrial Disorders Service website (opens in new tab) has a wealth of information and resources for both patients and families, and healthcare professionals.
Orphanet (opens in new tab) is a portal for rare diseases and orphan drugs. It's an unique resource, gathering and improving knowledge on rare diseases so as to improve the diagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains the Orphanet rare disease nomenclature (ORPHAcode), essential in improving the visibility of rare diseases in health and research information systems.
National clinical programmes and implementation groups in Wales provide a structure to support improvement, change and delivery.The Rare Diseases Implementation Group (opens in new tab) oversee the Wales Rare Diseases Action Plan 2022-2026 (opens in new tab) and support health boards to deliver their local plans.
Rare Resources – Cymru (opens in new tab) is a collection of bilingual information guides for families who have recently received a diagnosis of a genetic or rare condition, are on the journey to a diagnosis, or have been told their child’s condition is so rare they may not get a diagnosis. Rare Resources - Wales has been developed in collaboration between Genetic Alliance UK and families in Wales and provides links to reliable sources of information and support, suitable for both children and adults.
TEMPLE (Tools Enabling Metabolic Parents LEarning) are a set of teaching slides and booklets that provide essential information about different inherited metabolic disorders that require special diets as part of their management. These teaching tools are aimed at parents who may have an infant or child that has been recently diagnosed with a disorder, but they are also useful when teaching children, extended family members, child minders, nursery workers and school team and others. They have been developed by a team of experienced clinical and research metabolic dietitians from the UK who are members of the British Inherited Metabolic Disease Group (BIMDG) (opens in new tab).