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 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:
- Vomiting
- Irritability
- Excessive sleepiness
- Floppiness
- Breathing difficulties
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.
These effects can be prevented if the disorder is identified and treated in the first few days of life which is why screening is strongly recommended.
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.
The following information leaflets are available for parents and can be downloaded from the UK newborn screening Programme website:
- GA1 is suspected https://www.gov.uk/government/publications/ga1-suspected-description-in-brief
- GA1 confirmed diagnosis https://www.gov.uk/government/publications/ga1-confirmed-diagnosis-description-in-brief
The Inherited Metabolic Disorders National Managed Clinical Network will be able to give information and support to parents following the diagnosis of GA1