Glutaric aciduria type 1 (GA1)
Diagnosing GA1
At around five days old, babies are now offered newborn blood spot screening to check if they have GA1. This involves pricking your babys heel to collect drops of blood to test.
If GA1 is diagnosed, treatment can be given straight away to reduce the risk of serious complications.
With early diagnosis and the correct treatment, the majority of children with GA1 are able to live normal, healthy lives. However, treatment for GA1 must be continued for life.
Without treatment, severe and life-threatening symptoms can develop, including seizures (fits) or falling into a Coma . Some children with untreated GA1 are also at risk of brain damage, which can affect muscle movement. Thismay lead to problems with walking, talking and swallowing.
Around 1 in 100,000 children worldwide are thought to be affected by GA1.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body cant process certain amino acids, causing a harmful build-up of substances in the blood and urine.
Diagnosing GA1
At around five days old, babies are now offered newborn blood spot screening to check if they have GA1. This involves pricking your babys heel to collect drops of blood to test. If GA1 is diagnosed,
Symptoms of GA1
Symptoms of GA1 usually dont appear until a few months after birth, although some babies are born with a larger-than-average head (macrocephaly). Children with GA1 may develop some floppiness or weak
Metabolic crisis
Children with GA1 may have episodes known as a metabolic crisis, sometimes early in their life. Symptoms of a metabolic crisis include: poor feeding or loss of appetite lack of energy abnormal mov
Treating GA1
Diet Children diagnosed with GA1 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of amino acids your baby receives, especially lys
How GA1 is inherited
The geneticcause (mutation)of GA1 is passed on by the parents, who usually dont have any symptoms of the condition. The way this mutation is passed on is known as autosomal recessive inheritance. Thi
Information about you
If you or your child has GA1, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientis
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