Art, from Ireland

Art was 10 days old when we got the call. A man on the end of the line, a doctor from the hospital, told us there were abnormalities in our newborn screening results.  The newborn screening was something you just did, never thinking your child would have one of the conditions they tested for. I […]

Expanding newborn bloodspot screening for inborn metabolic disorders

Since its beginning in the 1960s, the National Newborn Bloodspot Screening Programme (NNBSP) has been proven to be a great success in Ireland. The inherited metabolic disorders (IMDs), which are screened for are Phenylketonuria, homocystinuria, maple syrup urine disease, galactosaemia, glutaric aciduria and MCADD. Currently, NNBSP in Ireland only identifies these six IMDs, congenital hypothyroidism […]

NCPE decision on Kuvan

The team at the NCIMD (National Centre for Inherited Metabolic Disorders) has learnt that the NCPE (National Centre for Pharmacoeconomics) has recommended against the funding of Kuvan (sapropterin dihydrochloride) for the treatment of PKU. The NCIMD team is disappointed to learn of this decision. The team is aware that this treatment may have a beneficial […]

Fundraising for NCIMD

Fundraising activities held to raise money for the National Centre for Inherited Metabaolic Disorders (NCIMD) include; running marathons and taking part in other sporting events, charity fun nights, wedding favours, cake sales, raffles and lots of fun events. We have three specific funds to donate to all of which benefit the children and young people […]

Joint Irish Paediatric Association/Ulster Paediatric Society Annual (IPA) meeting

The joint Irish Paediatric Association/Ulster Paediatric Society Annual (IPA) meeting was held recently. Congratulations to our Metabolic Registrar, Dr. Caoimhe Howard who won best talk in the plenary session for ‘A New Mitochondrial Syndrome caused by Homozygous p.Trp22Arg NDUFB3 Mutation in a Cohort of Patients with Persistent Growth Failure and Distinctive Facial Features’. Well done […]