Glutaric Aciduria Type 1 (GA1) is a rare life-threatening genetic disorder present from birth. In GA1, the body is unable to break down 3 amino acids called lysine, hydroxylysine and tryptophan, which then build up in the body and can cause problems.

At present, the treatment for GA1 involves a protein restricted diet for life and taking regular dietary supplements that contain amino acids, vitamins and minerals. Supplementation of L-Carnitine may be recommended.  This is a natural substance thats helps the body get rid of harmful substances.

During times of illness, the body will break down its own tissue  to provide energy (catabolism). This can be dangerous for people with GA1 as levels of glutaric acid and other harmful substances will increase quickly. Patients will have an individualised emergency plan to use when they are unwell.

Many countries screen newborns for this condition.  In Ireland, screening for GA1 was added to the National Newborn Bloodspot Screening Programme on December 3rd, 2018. At the NCIMD, we have been treating patients with GA1 for a number of decades and have significant experience of managing this disorder. Patients with GA1 are managed by the multidisciplinary team and we liaise closely with the Metabolic Laboratory to ensure close monitoring of these patients. We follow international best practice guidelines and we have also presented our experience of the management of GA1 at various international conferences.

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