The National Centre for Inherited Metabolic Disorders

The National Centre for Inherited Metabolic Disorders is based in CHI at Temple Street and the lab there performs a number of diagnostic tests for patients with suspected metabolic disorders. The Metabolic Laboratory also complete tests that are essential for the monitoring of diagnosed metabolic disorders.
The Amino Acid Analyser tests the whole of Ireland for the signs of rare genetic disorders. The analyser is used for follow-up testing where a problem is identified and for new-borns who are acutely ill. Used in the management of these metabolic disorders – tests on a weekly basis those who have a life threatening form of a metabolic disease.
Tests ensure patients are following their strict diet, which is amended based on lab results. Early screening and diagnosis means that the child is put on the correct diet immediately, in some cases a baby is not fed protein until the results come back from the lab. If a child with a metabolic disease is not diagnosed early it can cause brain damage & disabilities (i.e. PKU) and can be life threatening.
Over the years our supporters have kindly enabled us to purchase life-saving equipment for our hospital, such as the Amino Acid Analyser which makes a big difference to little patients, their families, and our staff every single day. Professor Ahmad Monavari in the National Centre for Inherited Metabolic Disorders says,
“Fundraising helped us to move into 21st Century by acquiring tandem mass spectroscopy for more sophisticated testing. Formerly we sent these samples abroad and it could weeks or months to receive a result. Now we have a result within days or even hours and this means more accurate diagnosis and improved management of patients.” – Ahmad Monavari