isovaleric acidemia
Isovaleric acidemia is a rare genetic disorder that affects the body's ability to break down certain proteins. It is caused by a deficiency in the enzyme isovaleryl-CoA dehydrogenase, which is essential for metabolizing the amino acid leucine. When this enzyme is not functioning properly, toxic levels of isovaleric acid can build up in the body, leading to various health issues.
Symptoms of isovaleric acidemia can include a distinctive odor of sweaty feet, vomiting, lethargy, and developmental delays. Early diagnosis and management, often through dietary changes and supplementation, are crucial to prevent serious complications and improve quality of life for affected individuals.