The Expanded Newborn Screening project has now ended. As a result of this project screening for this disorder will continue at the pilot sites, and will start at all other sites in England from early 2015. The information provided in these pages is no longer being actively maintained, and all the information leaflets and technical resources have been superseded by those produced by the NHS Newborn Blood Spot Screening Programme.
What does GA1 stand for?
GA1 stands for Glutaric Aciduria Type 1 (GA1) pronounced glue-taric acid-ur-ee-a.
What is GA1?
GA1 is a rare disorder in which a baby or child has a problem when breaking down the building blocks of protein, in particular the amino acids lysine and tryptophan For people with GA1, eating too much protein can cause causes harmful substances to build up in the blood and urine.
What are amino acids?
Amino acids are the building blocks of protein. Normally, people get protein in foods such as meat and the body uses this to help keep the tissues of the body healthy. Amino acids which are not needed are broken down and removed from the body. People with GA1 are unable to breakdown some of the amino acids (lysine and tryptophan) and so harmful substances can build up.
What are the effects of having GA1?
In children with GA1, a minor illness, such as a chest infection or a tummy upset, can lead to serious problems. Early signs may be:
If a child with GA1 has these symptoms, they should be taken straight to hospital. Without treatment, the child can go into a coma. Though most children come out of the coma, they usually have brain damage that affects their ability to control their muscles and movements. This means that they may be unable to sit, walk, talk or swallow.
How is GA1 treated?
GA1 is treated with a special low protein diet and a medicine (called carnitine). These measures help prevent the build-up of harmful substances in the blood whilst ensuring that the child receives enough protein to grow and develop.
During illnesses, protein feeds are stopped and the child is given special sugary drinks, known as the Emergency Regimen; if the child vomits, he or she needs to go to hospital.