Feedback about our www.metabolic.ie website.

We recently received some lovely, positive commentary about our www.metabolic.ie website.  Ms. Mairead Moloney, a dietitian working in Great Ormond Street Hospital for Children (GOSH) in London, took the time to write in as follows: ‘To whom it may concern.  Just a quick email to say that I think your online resources are absolutely fantastic! […]


Kuvan® update.

Dear Parent/Guardian, As you may be aware, the HSE has now indicated that it will fund Kuvan® for those patients with PKU that are clearly responsive to it. Kuvan® is a drug that can help reduce phe levels in the body in a small group of patients with PKU. This funding is due to become […]


Galactosaemia Research

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 […]



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