Due to the current COVID-19 (Coronavirus) situation in the country, we will not be doing any further Kuvan® responsive testing for patients with PKU until further notice. This is due to the HSE directive to all hospitals in a collective effort to limit the spread of COVID-19 in the population. We acknowledge that this will […]
Author: metabolic
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 […]
ISIMD Conference Cancelled
Please note that the ISIMD conference planned for April 3rd has been cancelled due to COVID-19 issues. We hope to reschedule this at a later date.
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 […]
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/