What is IVA?
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 have inherited 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 have problems breaking down an amino acid called leucine because an enzyme is missing. 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.
Symptoms of IVA
Babies with IVA are at risk of developing the following symptoms:
- poor feeding
- irritability
- sleepiness
- vomiting
- breathing difficulties and fast breathing
- coldness
These symptoms can be controlled with treatment.
Left untreated, babies with IVA can deteriorate, have fits and slip into a coma which can be life threatening. This is due to high levels of harmful substances in the body.
When ill, many babies with IVA also develop a smell like that of sweaty feet.
When babies with IVA become ill, they might show symptoms of metabolic crisis. A metabolic crisis is a period of time when the effects of the condition make your child unwell. Some children with IVA do not develop symptoms of a metabolic crisis until later in their first year of life or later in childhood. Causes of a metabolic crisis can include an infection such as a stomach upset or vomiting illness.
Treatment
Treatment for IVA involves a special low protein diet and medication.
Diet
The aim of the diet is to reduce the build-up of leucine, which can cause metabolic crisis and learning difficulties. However, babies need some leucine to grow and develop. Your specialist metabolic dietitian will teach you how to measure and control the amount of protein you give to your baby, including breast milk feeds.
As high protein foods and milk (including breast milk and normal infant formula) have to be limited, a special infant formula is given to meet all nutritional requirements.
This special infant formula is very important as it allows normal growth and development and helps to reduce the build-up of the harmful toxins in the brain.
Medication
Medications called L-Carnitine and/or Glycine are used to help clear some of the body’s toxins. These medications are taken by mouth and obtained on prescription through your doctor. They need to be taken regularly even when your baby is ill.