A multicentre collaborative paper including anonymous consented information from a total of 509 individuals with Classical Galactosaemia including 70 Irish participants which describes the outcomes of individuals treated for Classical Galactosaemia has recently been published in the prestigious journal, ‘Orphanet Journal of Rare Diseases’. Financial assistance for this study was provided by a grant from […]
Author: metabolic
SSIEM Annual Symposium 2019.
The Society for the Study of Inborn Errors of Metabolism (SSIEM) is holding its annual symposium in Rotterdam, The Netherlands from September 3rd to September 6th, 2019. The theme of the congress is ‘Building Bridges’. Further information is available at https://ssiem2019.org/
International PKU Day 2019.
We will be celebrating International PKU Day again this year with our annual Mad Hatters’ Phe Party. It will take place on Wednesday, June 19th from 10am to 1pm in the Metabolic Unit, Temple Street Hospital. This year, we would like to introduce our ‘PKU Supporters’ Club’. It is said that it takes a village […]
Irish Society for Inherited Metabolic Disorders Spring Conference 2019
We are pleased to announce that the Spring Conference of the Irish Society for Inherited Metabolic Disorders (ISIMD) will be held on Friday, April 12th, 2019 in the Pillar Room of the Rotunda Hospital, Dublin. The theme of the conference is ‘Multi-System Presentation of Inherited Metabolic Disorders’. The conference programme and registration details may be […]
News about Kuvan (Sapropterin)
In a welcome development for patients with PKU, we have been informed by BioMarin that they have received communication from the Corporate Pharmaceutical Unit in the HSE that Kuvan (Sapropterin) will be reimbursed from July 1st, 2019 under the High Tech Scheme. We will post more information as we receive it.
ISIMD Autumn meeting October 2018.
The Autumn meeting of the ISIMD was held in St. George’s Hall, in Temple Street Children’s University Hospital on October 4th 2018. The topic for the meeting was “Update on Newborn Bloodspot Screening”. The invited speaker was Ralph Fingerhut, Director Swiss Newborn Screening, Zurich. The presentation was interesting and informative, and was followed by a […]
Recent Fundraising
The NCIMD and its patients wish to extend their sincere thanks to Vincent Murphy (Murphy’s Pub, Rathmines) and Ciaran Cosgrave for their very generous fundraised donation of €6,200. These funds will be used to upgrade facilities in our Conference Room so that it can be used as a clinical space for patient education via the Health […]
NSPKU
NSPKU Study Day 1-day study day followed by a BIMDG Dietitians Group Business Meeting Date: Thursday 29th November 2018 Time: 09:30 – 17:30 Location: Radisson Blu Hotel, Liverpool, 107 Old Hall Street, Liverpool, L3 9BD http://www.nspku.org/events/conferences
The NCIMD celebrated International PKU Day on Wednesday 27th June with a Mad Hatter PHE party
June 28th is International PKU Day. The date has been designated International PKU Day since 2013. The date was chosen as June 28th coincides with the birthday of two PKU stalwarts; Robert Guthrie (1016 – 1995) and Horst Bickel (1918 – 2000). This year the day held a special significance as it was the 100th […]
The 2018 Irish Society of Inherited Metabolic Disorders (ISIMD) Conference
The ISIMD Conference 2018 is on Friday, 20 April, in the Pillar Room, Rotunda Hospital. This year’s conference is Ketones and Metabolic Disorders. Please see www.isimd.ie for more details. Registration online. €25 full day. All disciplines welcome.