Isovaleric Acidaemia (IVA) is a rare, inherited disorder of protein metabolism caused by a deficiency in the enzyme isovaleryl-CoA dehydrogenase. In IVA, the body cannot break down the amino acid, leucine, causing a build-up of isovaleric acid, other organic acids and toxic chemicals, including ammonia. The severity of IVA can vary from mild to severe, with some cases presenting in the neonatal stage and others later in childhood.

The current treatment for IVA is a protein restricted diet for life and taking a regular dietary supplement called synthetic protein which contains all amino acids except leucine, in addition to vitamins and minerals. Carnitine and glycine supplementation are also used in the management of IVA to help excrete toxic substances.

During times of illness, patients with IVA must adhere to an individualised emergency plan. This plan aims to prevent catabolism, where the body breaks down its own tissues to release energy.

 

At NCIMD, patients with IVA are managed by the multidisciplinary team and we liaise closely with the Metabolic Laboratory to ensure close monitoring of these patients. We follow international best practice guidelines to manage our patients with IVA.