Isovaleric acidaemia
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 inheritance. This means a baby needs to receive two copies of the mutated gene to develop the condition one from their mother and one from their father. If the baby only receives oneaffected gene, theyll just be a carrier of IVA.
If youre a carrier of thealtered gene and you have a baby with a partner whos also a carrier, your baby has:
- a 25% chance of developing the condition
- a 50% chance of being a carrier of IVA
- a 25% chance of receiving a pair of normal genes
Although its not possible to prevent IVA, its important to let your midwife and doctor know if you have a family history of the condition. Any further children you have can be tested for the condition as soon as possible and given appropriate treatment.
You may also wish to consider genetic counselling for support, information and advice about genetic conditions.
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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