What Is Isovaleric Acidemia?
Proteins are comprised of amino acids which our bodies use in synthesizing other proteins and as an energy source for normal growth and development. Healthy individuals break down proteins shortly after ingesting them. Individuals who suffer from isovaleric acidemia (IA), a rare inherited disorder that affects about 1 in every 250,000 or so people, cannot break down proteins properly. As a result, excessive levels of organic acids build up in the blood, urine and throughout the rest of the body.
Symptoms experienced by those who have IA range from very minor to life-threatening. In some cases, symptoms arise near the time of birth. Symptoms commonly seen at this time include refusal to eat, vomiting, frequent fussiness, extreme tiredness and even seizures, among others. In the worst of cases, whether in infancy, adolescence, or adulthood, coma and even death occurs.
In many instances, symptoms are mild and can even disappear completely for long periods of time. In some affected individuals, symptoms are alleviated in childhood and never return again.
A hallmark sign of IA is a putrid, sweaty odor that is released from the body, especially at times when other symptoms are at their worst. Specifically, this sweaty odor is due to the build up of abnormal levels of a compound that is known as isovaleric acid.