Isovaleric acidaemia (IVA) is a rare, but potentially serious, inherited condition. It means the body cant process the amino acid leucine (amino acids are 'building blocks' of protein). This causes a harmful build-up of substance 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 IVA are unable to fully break down the amino acid leucine.
Normally, leucine is broken down into a substance called isovaleric acid, which is then converted into energy. Babies with IVA dont have the enzyme that breaks down isovaleric acid, leading to a harmfully high level of this substance in the body.
Isovaleric acidaemia (IVA) is a rare, but potentially serious, inherited condition. It means the body cant process the amino acid leucine. This causes a harmful build-up of substance in the blood and urine.
At around five days old, babies are now offered newborn blood spot screening to check if they have IVA. This involves pricking your babys heel to collect drops of blood to test. If IVA is diagnosed,
The symptoms of IVAaren't the same for everyone with the condition and some people may have more severe or frequent symptoms. Symptoms sometimes appear within the first few days or weeks after birth
Diet Children diagnosed with IVA are referred to a specialist metabolic dietitianand given a low-protein diet. This is tailored to reduce the amount of leucine your baby receives. High-protein foods
The geneticcause (mutation) responsible for IVA 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 in
If you or your child has IVA, your clinical team will pass information about you/them on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists loo