Isovaleric acidaemia
Diagnosing IVA
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, treatment can be given straight away to reduce the risk of serious complications. Treatment includes a special diet, advice and sometimes medication.
With early diagnosis and the correct treatment, the majority of children with IVA are able to live healthy lives. However, treatment for IVA must be continued for life.
Without treatment, severe and life-threatening symptoms can develop in some children, including seizures (fits) or falling into a Coma . Some children with untreated IVA are also at risk of brain damage and developmental delay.
Around 1 in 250,000 children are thought to be affected by IVA.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
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.
Diagnosing IVA
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,
Symptoms of IVA
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
Treating IVA
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
How IVA is inherited
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
Information about you
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
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