isovaleric acidemia

Overview

Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids.

Symptoms

• Excess isovaleric acid in the body
• Smelly feet
• Sweaty feet
• Poor feeding in infants
• Vomiting

Causes

IVA occurs when an enzyme, called “isovaleryl-CoA dehydrogenase”, is either missing or not working properly. This enzyme’s job is to help break down a substance called “isovaleryl-CoA”. It is made in the body when the amino acid leucine is broken down. When a child with IVA eats food containing leucine, a substance called isovaleric acid builds up in the blood and causes problems. Leucine is found in all foods that contain protein.

Diagnosis

IVA occurs when an enzyme, called “isovaleryl-CoA dehydrogenase”, is either missing or not working properly. This enzyme’s job is to help break down a substance called “isovaleryl-CoA”. It is made in the body when the amino acid leucine is broken down. When a child with IVA eats food containing leucine, a substance called isovaleric acid builds up in the blood and causes problems. Leucine is found in all foods that contain protein.

Treatment

Treatment involves a protein-restrictive diet and carnitine supplementation. Oral administration of glycine is lifesaving and may permit normal growth and development.