Contents
― Your baby's screening result
― What is IVA?
― Treatment
― What happens next?
― Your questions answered
― More information and support
― Using your information
The result of your baby’s ‘heel prick’ screening blood test suggests they might have isovaleric acidaemia (IVA). Your baby now needs further tests to check whether he or she has IVA or not.
This leaflet gives some information about IVA and explains what happens next.
Isovaleric acidaemia (IVA), pronounced iso-val-air-ik-acid-e-mia, is a rare but treatable inherited disorder that prevents the normal breakdown of protein.
Babies with IVA inherit two faulty copies of the gene for IVA, one from each parent.
When we eat, our body breaks down protein in food into smaller parts called amino acids. Special chemicals found naturally in our body, called enzymes, then make changes to the amino acids so our body can use them.
Babies with IVA do not have one of the enzymes that help break down one of the amino acids. This causes harmful substances to build up in their blood and urine.
Babies with IVA benefit significantly from early treatment and can live healthy and active lives.
Without early diagnosis and treatment they can develop serious illness and damage to the brain.
There is also a milder version of IVA, which only requires treatment when a baby is unwell, for example if they have an infection. Your baby will also be tested for this milder version of IVA.
IVA can be treated with a special low-protein diet and dietary supplements. This prevents the build-up of harmful substances. Your baby may also be given medication.
It is important that babies with IVA feed regularly and do not go for long periods without eating. They also need to see their specialist metabolic team regularly.
If your baby is unwell in any way it is important to follow medical advice. When they are unwell, they may need to go into hospital for treatment. Take any information you have about IVA with you.
You will be given an appointment to see a specialist metabolic team who will:
If IVA is confirmed, your specialist metabolic team will:
How will I know if my baby is ill and what should I do?
Babies with IVA can become ill within the first few days of life. If they
become ill they may:
These symptoms are important and you should not ignore them. If they are not treated, ill babies can get worse, have fits and slip into a coma, which can be life-threatening.
If you are worried that your baby is ill, contact a member of your specialist metabolic team.
If you cannot contact your specialist metabolic team you should take your baby to your local accident and emergency department as soon as possible as they might need to be admitted to hospital.
Take any information that you have been given about IVA to the hospital with you.
For us to contact you as part of the programme,
we will need to handle some of your and your baby’s personal information. If you need more information about this, you can:
We also keep personal details to make sure that the standard of our service is as high as possible. This includes checking your baby’s records if your baby is found to have a condition after having a screening test which showed a ‘not suspected’ result.
We only ever publish information as statistics and we never publish personal details. We pass on
your personal information to health professionals or organisations that need it, including your GP, health visitor and consultant paediatrician. These professionals must protect the personal information in the same way as we do.
All our paper and computer records are stored and processed securely, and
the public cannot access them