Glutaric aciduria type 1 (GA1)
Introduction
Glutaric aciduria type 1 (GA1) is a rare but serious inherited condition. It means the body cant process certain amino acids ("building blocks" of protein), causing a harmful build-up of substances in the blood and urine.
Normally, our bodies break down protein foods like meat and fish into amino acids. Any amino acids that aren't needed are usually broken down and removed from the body.
Babies with GA1 are unable to break down the amino acids lysine, hydroxylysine and tryptophan.
Normally, these amino acids are broken down into a substance called glutaric acid, which is then converted into energy. Babies withGA1 dont have the enzyme that breaks down glutaric acid, leading to a harmfully high level of this and other substances in the body.
Medically Reviewed by a doctor on 28 Nov 2016
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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