Diagnosis
Organic Acidaemias
Isovaleric Aciduria (IVA)
Definition
Isovaleric Aciduria is an inherited autosomal recessive metabolic disorder, which is caused by a genetic defect where the isovaleryl-CoA dehydrogenase is either missing or not working properly to metabolise leucine. Consuming foods containing leucine results in a substance called isovaleric acid building up within the blood. Isovaleric acidemia (IVA) was the first condition to be recognised as an organic acidemia.
Diagnosis
The condition is diagnosed during newborn screening via the heel prick test taken 48-72 hours after birth.
Prevalence
1:250,000 estimated worldwide
Treatment
Treatment of Isovaleric Aciduria involves low protein dietary modification to restrict the intake of leucine. A leucine-free formula may also be given. These specially formulated powders contain a balanced mix of essential and non-essential amino acids, vitamins and minerals, with minimal carbohydrates. Oral carnitine and glycine supplements may also be prescribed. Infections and fevers are treated aggressively to prevent muscle breakdown and subsequent release of stored proteins. This is achieved by limiting dietary protein during periods of illness and increasing the intake of carbohydrates. A range of special low-protein food products is available. The dose of carnitine is also increased at these times.
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