IVA is a rare disorder in which a baby or child has a problem breaking down protein in particular the amino acid known as leucine. For people with IVA, eating too much protein can cause causes harmful substances to build up in the blood.
What are the effects of having IVA? Children with IVA can become severely unwell. Early signs may be:
- Vomiting
- Excessive sleepiness
- Floppiness
- Rapid breathing
Without treatment, this can lead to a coma and permanent brain damage. Some babies with IVA have problems within a few days of birth; other children become unwell at a few months or years of age, maybe during a minor illness, such as a chest infection or a tummy upset.
IVA can vary in severity. In some mild forms of IVA, the risk of problems is much lower and this means that the treatment can be simpler.
These effects can be prevented if the disorder is identified and treated in the first few days of life which is why screening is strongly recommended.
How is IVA treated? IVA is treated with a special low protein diet and medicines (called carnitine and glycine). This treatment helps to prevent the build-up of harmful substances in the blood, whilst ensuring that the baby receives enough protein to grow and develop.
The following information leaflets are available for parents and can be downloaded from the UK newborn screening Programme website:
- IVA is suspected https://www.gov.uk/government/publications/iva-is-suspected-description-in-brief
- IVA confirmed diagnosis https://www.gov.uk/government/publications/iva-confirmed-diagnosis-description-in-brief
The Inherited Metabolic Disorders National Managed Clinical Network will be able to give information and support to parents following the diagnosis of IVA