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Isovaleric acidemia is a rare disorder in which the body is
unable to process certain proteins properly. People with this
disorder have inadequate levels of an enzyme that helps break
down the amino acid leucine, a building block of proteins.
A characteristic feature of isovaleric acidemia is a distinctive
odor of sweaty feet. This odor is caused by the buildup of a
compound called isovaleric acid in affected individuals.
In about half of cases, the signs and symptoms of this disorder
become apparent within a few days after birth and include poor
feeding, vomiting, seizures, and lack of energy (lethargy) that
can progress to coma. These medical problems are typically severe
and can be life-threatening. In the other half of cases, the
signs and symptoms of the disorder appear during childhood and
may come and go over time. They are often triggered by an infection
or by eating an increased amount of protein-rich foods. more
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