Inherited metabolic disease and coronavirus (COVID-19)

ADVICE FOR PATIENTS/PARENTS/GUARDIANS A number of you have been in touch looking for advice relating to the global Coronavirus (also known as COVID-19) outbreak.  Below is some practical, general information and links to useful, reliable websites. It is now clear that this a rapidly evolving situation, with advice from the government/HSE changing regularly.  While we […]



COVID-19

To our patients and families: We are aware that the virus COVID-19 (Corona virus) may be causing some worry and confusion among our patients and families. We recommend that you follow the advice of the HSE and Government bodies.  The following websites are updated daily where you will find the latest information about COVID-19: HSE […]



ISIMD Autumn Meeting 2019

ISIMD Autumn Meeting 2019 – Next Generation Technologies in the Management of Neurometabolic Disorders with Dr. Clara van Karnebeek.  Dr. van Karnebeek is an Associate Professor in Paediatrics and Biochemical Genetics, Amsterdam, UMC.  The meeting will be held on Thursday, 7th November in St. George’s Hall, Children’s University Hospital, Temple Street, Dublin 1.  Refreshments from […]


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 […]