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Clinical Resources

British Inherited Metabolic Disease Group

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.

European Society for Phenylketonuria (E.S.PKU)

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.

Genetic Alliance UK

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.

Genomics Partnership Wales

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.

Guidelines in the Journal of Inherited Metabolic Disease (JIMD)

In a special online issue of the Journal of Inherited Metabolic Disease (JIMD) (opens in new tab), to accompany an editorial by Rahman et al. (2023), the JIMD bring together in one place a collection of clinical practice guidelines and position papers.

International Classification of Inherited Metabolic Disorders (ICIMD)

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.

NHS Rare Mitochondrial Disorders Service

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.

Rare Resources - Cymru

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).

The National Society for Phenylketonuria (NSPKU)

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).

Wales Rare Diseases Implementation Network

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 2022-2026 (opens in new tab) and support health boards to deliver their local plans.

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