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.
The National Formulary for Inherited Metabolic Disease (opens in new tab) has been developed to support prescribers across the NHS in prescribing treatments for rare inherited metabolic disorders. The drug monographs contained within this formulary give basic information on metabolic medications which may be prescribed. It has been developed, checked for use and endorsed by the British Inherited Metabolic Disease Group (BIMDG). The monographs are abbreviated and do not provide comprehensive medication information. ALWAYS refer to other prescribing reference sources when prescribing for complete information on contraindications, cautions and side effects for example.
The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (or E.S.PKU) is the non-profit umbrella organisation representing European countries. With the help of sponsors E.S.PKU has enabled professionals in Europe to work on European Clinical Guidelines (opens in new tab) that incorporate the need for more unified treatment in Europe.
FindZebra (opens in new tab) is intended primarily for healthcare professionals concerned with diagnosis of rare diseases and is an online tool for helping diagnosis of rare diseases. It uses freely available high quality curated information on rare diseases and open source information retrieval software.
FindZebra is a symptom checker where healthcare professional can enter clinical and phenotype information, symptoms and findings and FindZebra returns potential diseases and genes involved.
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.
In a special online issue of the Journal of Inherited Metabolic Disease (JIMD) (opens in new tab), to accompany an editorial (opens in new tab) by Rahman et al. (2023), the JIMD bring together in one place a collection of clinical practice guidelines and position papers.
The International Classification of Inherited Metabolic Disorders (ICIMD) (opens in new tab) is a hierarchical, group-based collation of all currently known inherited metabolic disorders. ICIMD includes any primary genetic condition in which alteration of a biochemical pathway is intrinsic to specific biochemical, clinical and/or pathophysiological features. The ICIMD has been collated by Carlos R. Ferreira (Bethesda, USA), Shamima Rahman (London, UK), and Johannes Zschocke (Innsbruck, Austria), together with the ICIMD Advisory Group.
Cardiff is one of two centres designated by the Advisory Group for National Specialised Services (AGNSS) to provide a national service for patients with active acute porphyria. The other centre is at King’s College in London. The National Acute Porphyria Service (NAPS) also work in partnership with two Regional Porphyria Centres in Salford and Leeds. NAPS provides clinical advice and support as well as authorisation and provision of haem arginate treatment 24 hours a day, seven days per week. The out of hours service is provided in rotation from one of the two centres and can be contacted through the University Hospital of Wales switchboard: 029 218 47747.
The British and Irish Porphyria Network (opens in new tab) have developed a Best Practice Guideline on the Clinical Management of Acute Attacks of Porphyria and their Complications (opens in new tab). The guidelines provide a practical assessment and management tool for patients with acute porphyria attacks. Patients hospitalized with acute porphyria attacks are at risk of acute deterioration and the guidelines emphasize additional measures required when attacks are complicated by progressive neuropathy. Treatment options for patients with recurrent attacks are described.
The Welsh Medicines Advice Service (WMAS) offers a specialist advisory service on the safe use of drugs in porphyria (opens in new tab) to UK-based healthcare professionals and members of the public.
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.
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. Partneriaeth Genomeg Cymru, 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.
National implementation networks in Wales provide a structure to support improvement, change and delivery. The Wales Rare Diseases Implementation Network (opens in new tab) oversee the Wales Rare Diseases Action Plan 2022-2027 (opens in new tab) and support health boards to deliver their local plans.
Rare Resources – Wales (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) guides 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).
Phenylketonuria (PKU) is a rare metabolic disorder. People with PKU cannot metabolise phenylalanine, an amino acid found in protein foods. Visit the NSPKU website (opens in new tab) where you will find a wealth of advice, guidance and downloadable documents (opens in new tab).