IVA Introduction

The Expanded Newborn Screening project has now ended.  As a result of this project screening for this disorder will continue at the pilot sites, and will start at all other sites in England from early 2015.  The information provided in these pages is no longer being actively maintained, and all the information leaflets and technical resources have been superseded by those produced by the NHS Newborn Blood Spot Screening Programme.

Please use the following pages (film and leaflets, resources and fact file) to find out more information about IVA.

What does IVA stand for?

IVA stands for Isovaleric Acidaemia pronounced Iso-val-air-ik acid-e-mia.

What is IVA?

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 is an amino acid?

Amino acids are the building blocks of protein.  Normally, people get protein in foods such as meat and the body uses them to help keep the tissues of the body healthy.  Amino acids which are not needed are broken down and removed from the body.  People with IVA are unable to breakdown an amino acid (called leucine) and so harmful substances build up

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.

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.

During illnesses, protein feeds should be stopped and the child is given special drinks, known as the Emergency Regimen; if the child vomits these, he or she needs to go to hospital.