Isovaleric acidaemia
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 and may include:
Babies with IVA may also have episodes known as a metabolic crisis. Symptoms of a metabolic crisis include:
Its important to get medical help immediately if your baby develops symptoms of a metabolic crisis. Once the condition is diagnosed, your doctor will explain how to recognise these signs.
In some cases, a metabolic crisis may be triggered later in childhood by an infection or illness. The hospital should provide you with emergency treatment instructions to follow if your child is ill, which will help prevent these symptoms developing.
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.
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,
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
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
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
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