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 […]


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.


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 […]




Congratulations Eilish

Eilish O’Connell, our Clinical Education facilitator, won an All-Ireland medal in golf last year. She is pictured here with her golf partner, Martin Darcy. She played for her home club of Tullamore Golf Club in the All-Ireland Mixed foursomes 2017. Over 300 teams entered throughout Ireland and in September 2017 were crowned All-Ireland Champions. We […]



Connect for Care 2017

Connect for Care 2017: Diversities in Rare Diseases, Similarities in Care was attended by a number of nursing staff from the National Centre for Inherited Metabolic Disorders in Temple Street. It is a meeting aimed at nurses caring for children with lysosomal storage disorders. The meeting had three sessions, Diversity in rare diseases and the […]