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 leads to the accumulation of isovaleric acid in the blood. This can result in various health issues, including metabolic crises, developmental delays, and neurological problems.
Symptoms of Isovaleric Acidemia can vary but often include a distinctive odor resembling sweaty feet, vomiting, and lethargy. Early diagnosis through newborn screening is crucial for managing the condition, typically involving dietary restrictions and supplementation to prevent complications and promote healthy growth.