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# BIMDG

British Inherited Metabolic Diseases Group

## Sitemaps

- [XML Sitemap](https://bimdg.org.uk/sitemap.xml): Contains all public & indexable URLs for this website.

## Posts

- [Events](https://bimdg.org.uk/events/)
- [Advances in PKU Management webinar - 07/11/2025](https://bimdg.org.uk/advances-in-pku-management-webinar-07-11-2025/) - STD_Live Webinar_PKU-2025Download
- [ISIMD National conference](https://bimdg.org.uk/isimd-national-conference/) - ‘New Insights and Personalised Treatments in Inborn Metabolic Disorders’ Friday, 14th November 2025 The programme over the course of 1 day taking a hybrid format, includes a vast range of interesting clinical topics including Late-onset ASA, transitioning individuals with PKU in ireland to adult services, navigating the complexities of personalised treatments and the experience of
- [3rd Annual Lysosomal Disease Summit](https://bimdg.org.uk/3rd-annual-lysosomal-disease-summit/) - Sydney, Australia, 24 – 26 October, 2025 Advancing Research and Treatment Across APAC Now in its third year, the Lysosomal Disease Summit is the leading event for metabolic and lysosomal disease healthcare practitioners and researchers in Australia and the Asia-Pacific region. Taking place on 24–26 October 2025 at the Hyatt Regency Sydney, the Summit provides
- [Liver and Kidney transplantation for IMD - London, June 2025](https://bimdg.org.uk/liver-and-kidney-transplant-in-imd-london-june-2025/) - Liver & liver-kidney transplantation for inherited metabolic disorders – advanced course 12-14 June 2025, London On behalf of Recordati Rare Diseases Foundation, the scientific organising committee of Roshni Vara, Dino Hadzic, Carlo Dionisi-Vici, Robin Lachmann are pleased to promote the following advanced eductaional course for professionals. Full programme and online registration: www.rrd-foundation.org. Deadline for registration: 19th April
- [EAS Paediatric FH symposium - Registration now open!](https://bimdg.org.uk/eas-fh-conference/) - Dear Colleagues, Registration has now opened to the 8th Paediatric FH Workshop to be held on 3 May 2025 in conjunction with the EAS Congress in Glasgow. We have an exciting programme which can be seen at the congress website. Please join us by registering free of charge to the symposium, and please forward this email
- [ESPKU Autumn meeting](https://bimdg.org.uk/espku-autumn-meeting/) - Date of meeting: Friday 25th October 2024 Call for ESPKU Abstract Submissions on Research by Professionals in PKU The Scientific Advisory Committee of the ESPKU invites submission of abstracts on research and developments in PKU by professionals for oral presentation at the ESPKU meeting for professionals, on Friday, 25th October 2024. The final deadline for
- [Cell trafficking and complex lipids - RRD Foundation](https://bimdg.org.uk/cell-trafficking-and-complex-lipids-rrd-foundation/) - CELL TRAFFICKING AND COMPLEX LIPIDS - AN INTERCONNECTED NETWORK OF RAPIDLY EXPANDING DISORDERS Date of meeting: 28-30 November 2024, Rome, Italy Cell_trafficking_complex_lipids_RRDF_771920_10072024Download This is a Recordati Rare Diseases Foundation course organised with Angeles Garcia Cazorla and Carlo Dionisi Vici and Diego Martinelli and Alfonso Oyarzabal. The full programme is on the RRDF website. “Cell trafficking

## Pages

- [Home](https://bimdg.org.uk/) - Our goal is to relieve persons suffering from inherited metabolic disease by advancing the education of persons involved in the diagnosis, care and treatment.
- [Formularies](https://bimdg.org.uk/formularies/) - The formularies have been developed to support prescribers across the NHS in the prescription and monitoring of treatments for rare inherited metabolic disorders. In conjunction with the formularies, a shared care guidance plan has been produced to support prescribers in primary and secondary care. Four documents can be accessed from this page: 1) The BIMDG
- [Trainees](https://bimdg.org.uk/professionals/trainees/) - This section is designed for trainees who have an interest in either the laboratory or clinical diagnosis or treatment of inherited disorders of metabolism. Trainees may include those in the fields of laboratory science (clinical and biomedical), medicine, nursing, dietetics, psychology, or other related fields directly applicable to inherited metabolic disorders. All trainees are welcome
- [Trainees](https://bimdg.org.uk/members/trainees-members/)
- [Dietitians](https://bimdg.org.uk/members/dietitians-members/)
- [NBS Guidelines](https://bimdg.org.uk/guidelines/nbs-guidelines/) - Please see below the diagnostic and emergency guidelines for each of the newborn screening IMDs. General links NBS - Parent info Leaflets NBS - Supporting document Notification of clinically identified IMD (not picked up by NBS) form Hereditary Tyrosinaemia Type 1 Added to NBS screening in NHS England Summer 2025 (devolved nations to follow). HT1
- [Emergency Guidelines](https://bimdg.org.uk/emergency-guides/) - Adult guidelines Paediatric guidelines Undiagnosed problems guidelines Our emergency guidelines are intended to be used as templates for new and existing patients living with IMD. The "child" guidelines are intended for children and adolescents up to end of puberty being managed on paediatric wards. The “adult” guidelines are intended for adult hospitals and wards. Hospitals
- [MCADD detailed guidelines](https://bimdg.org.uk/emergency-guides/mcadd-detailed-guidelines/)
- [Undiagnosed problems](https://bimdg.org.uk/emergency-guides/undiagnosed-problems/)
- [LSD guidelines](https://bimdg.org.uk/guidelines/lsd-guidelines/) - These guidance documents have been developed by representatives of the NHSE Highly Specialised Services for Lysosomal Storage Disorders (formerly the LSD Expert Advisory Group), in collaboration with patient organisations, coordinated by the Patient Professional Partnership Network (PPPN) They are independent of the BIMDG emergency guidelines committee and are hosted on the BIMDG website for information
- [TEMPLE](https://bimdg.org.uk/education/temple/) - 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
- [Guidelines](https://bimdg.org.uk/guidelines/) - Prospective management of surgery Prospective management of at-risk sibling LSD Newborn screening COVID-19 Generation study
- [Patients](https://bimdg.org.uk/patients/) - We are sorry . . . . The BIMDG website is not designed for patients and parents. We encourage you to contact your local Inherited Metabolic Disease centre. However, we have recently added TEMPLE guides (Tools Enabling Metabolic Parents LEarning) which may be helpful for parents. Although we are not affiliated with any patient support groups,
- [Annual Symposium 2025](https://bimdg.org.uk/events/symposium-2025/) - We are pleased to announce that registration and abstract submission is OPEN. A variety of registration types are available for either one or both days of conference. Conference dinner and accommodation can be included or added on depending on your needs. To view more details about how the conference is shaping up and to register,
- [Dietitians secretary](https://bimdg.org.uk/members/dietitians-members/dietitians-secretary/)
- [Dietitians Secretary Admin](https://bimdg.org.uk/members/dietitians-members/dietitians-secretary/ds-admin/)
- [Adult guidelines](https://bimdg.org.uk/emergency-guides/adult-guidelines/)
- [Paediatric Guidelines](https://bimdg.org.uk/emergency-guides/paediatric-guidelines/)
- [Members](https://bimdg.org.uk/members/)
- [Psychologists](https://bimdg.org.uk/members/psychologist-members/)
- [Pharmacists](https://bimdg.org.uk/members/pharmacists-members/)
- [Nurses](https://bimdg.org.uk/members/nurses-members/)
- [Committee](https://bimdg.org.uk/members/committee/)
- [Dietitians](https://bimdg.org.uk/professionals/dietitians/) - BackgroundAimsWhat we doMembershipCommittee MembersSapropterinUseful DocumentsUseful Links Background The Dietitians Group was formed in 1999 as a sub-group of the BIMDG. The objective was to unite and form a network of dietitians working in the field of inherited metabolic disease. A committee was formed in October 2002. Aims The main aims of the group are to:
- [Professionals](https://bimdg.org.uk/professionals/) - Dietitians Nurses Pharmacists Psychologists Trainees
- [Nurses](https://bimdg.org.uk/professionals/nurses/) - Background The Nurses group began in 2002 and became a sub group of the BIMDG in 2003. The purpose of the group was to specifically promote patient care by sharing information, ideas and experiences. Over the years the group has been involved in patient information and has seen nurses from the group become representative’s on
- [Education](https://bimdg.org.uk/education/) - This section is designed for trainees who have an interest in either the laboratory or clinical diagnosis or treatment of inherited disorders of metabolism. Trainees may include those in the fields of laboratory science (clinical and biomedical), medicine, nursing, dietetics, psychology, or other related fields directly applicable to inherited metabolic disorders. All trainees are welcome
- [Prospective Management of Surgery](https://bimdg.org.uk/guidelines/prospective-surgery/) - Anaesthesia in patients with mucopolysaccharidoses (MPS) KeywordsRegional anaesthesia, Mucopolysaccharidosis, MPS VI (Maroteaux-Lamy), MPS IV (Morquio), MPS III (San Filippo), MPS II (Hunter), MPS I (Hurler), Local anaesthesia, General anaesthesia, Anaesthetic assessment Emergency guidelines Surgery in disorders of fatty acid oxidation (excluding MCADD) This protocol covers children with all the fat oxidation disorders excluding MCAD deficiency.
- [Membership](https://bimdg.org.uk/about/membership/) - As a BIMDG Member you will have access to The most current and all the previous Bulletinswhich contain articles by current experts on Inherited Metabolic Disease Exclusive information about the organisation National discussions You will also be added to our mailing list and kept up-to-date about forthcoming meetings and events. You can also join one
- [Prospective management of at risk sibling](https://bimdg.org.uk/guidelines/sibling/)
- [Membership management](https://bimdg.org.uk/membership-management/)
- [Sapropterin](https://bimdg.org.uk/professionals/dietitians/sapropterin/) - NHS England announced in December 2021 that it will make sapropterin available to individuals with PKU of all ages. In order to facilitate a smooth roll-out of responsiveness testing and prescribing a working group within BIMDG was formed, under the leadership of Rachel Skeath, to develop an agreed pathway, along with patient and parent/guardian information
- [Pharmacists](https://bimdg.org.uk/professionals/pharmacists/) - Background The Pharmacists Group was formed in 2013 as a sub-group of the BIMDG. The objective was to unite and form a network of pharmacists working in the field of inherited metabolic disease. The group covers pharmacists working in the UK and Ireland, in paediatric, adult and neuropsychology settings. Aims The main aims of the
- [Psychologists](https://bimdg.org.uk/professionals/psychologists/) - BIMDG PSYCHOLOGISTS EDUCATIONAL FUND The BIMDG Psychologists Group are delighted to launch a new educational fund for members. In 2021 we are able to offer up to £1,000 towards the costs of a training course or programme in neuropsychology or other areas of professional development which will benefit the IMD community. The deadline for applications
- [Education and Travel Grants](https://bimdg.org.uk/education/grants/) - Education and travel grant application Form 2023 EDUCATION AND TRAVEL GRANTS Aim: Educational grants are intended to assist members of the BIMDG to attend educational meetings and conferences in the field of inborn errors of metabolism or closely allied sciences. Eligibility Criteria: Educational grants are open to all the membership regardless of position or seniority
- [Prospective management of at risk siblings](https://bimdg.org.uk/guidelines/at-risk-siblings/) - Management of Baby at risk of Maple Syrup Urine disease at birth KeywordsMSUD Emergency guidelines MCADD at birth Covers the management of a baby at risk of MCAD deficiency at birth Emergency guidelines IV fluids Neonate at risk of an organic acidaemia Emergency guidelines Oral ER Neonate at risk of disorder of fatty acid oxidation
- [Generation Study](https://bimdg.org.uk/guidelines/generation-study/) - The Generation Study is a research programme being delivered by Genomics England in partnership with the NHS. It aims to recruit 100,000 newborn babies, whose genomes will be sequenced after birth (with their parents' consent). The study aims to facilitate the earlier identification of rare genetic conditions in babies, to gather genomic data for wider
- [COVID-19](https://bimdg.org.uk/guidelines/covid-19/) - The NHS continues to provide the COVID-19 vaccine as protection against getting seriously ill from COVID-19. The COVID-19 vaccine is recommended for people at increased risk from COVID-19. You may be offered a COVID-19 vaccine if you: are aged 65 or over are pregnant are aged 6 months to 64 years and have an increased
- [Contact Us](https://bimdg.org.uk/contact/) - Please use our single point contact form to get in touch with our organisation. Your message when submitted will be sent to the relevant group by email. If you are unsure which group to use or it doesn't fit into a single group please use the "Other" option. Please contact the webmaster at webmaster@bimdg.org.uk if
- [About](https://bimdg.org.uk/about/) - History and Aims of BIMDG The BIMDG was formed in 1989. The first annual meeting was in Bristol in May 1990 where the composition of the Committee was approved. The subject of that meeting was homocystinuria. A constitution was written and approved by the AGM in the following year, 7 July 1991 Inherited Metabolic Disorders
- [Login](https://bimdg.org.uk/login/) - To use all features of the website please use the link to wordpress login below. Login
- [BIMDG PRIVACY POLICY](https://bimdg.org.uk/about/privacy-policy/) - The British Inherited Metabolic Diseases Group (BIMDG) is a charitable incorporated organisation (CIO) with the following objectives: To relieve, for the benefit of the public, persons suffering from inherited metabolic disease by advancing the education of professionals involved in their diagnosis, care and treatment. To promote, for the benefit of the public, research into the
- [Research](https://bimdg.org.uk/research/) - There are many research studies recruiting individuals with inherited metabolic disease in the UK.These research studies include: Local or investigator-led studies Studies of the natural history or pathogenesis of disease Clinical trials of new treatments, medications or procedures If you are a patient, parent or carer and are interested in learning more or participating in

## Categories

- [Events](https://bimdg.org.uk/category/events/)