What is Isovaleric acidemia

Isovaleric acidemia is a rare genetic disorder that affects the body's ability to break down the amino acid called leucine. Leucine is an essential amino acid found in protein-rich foods. In individuals with isovaleric acidemia, an enzyme deficiency prevents the proper breakdown of leucine, leading to a buildup of a toxic substance called isovaleric acid.

This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. Symptoms of isovaleric acidemia can vary widely but often include poor feeding, vomiting, seizures, developmental delays, and a distinctive odor resembling sweaty feet or cheese.

Early diagnosis and treatment are crucial in managing isovaleric acidemia. Treatment typically involves a special low-protein diet, supplemented with specific formulas and medications to help remove excess isovaleric acid from the body. Regular monitoring and close medical supervision are necessary to prevent complications and ensure optimal growth and development.

While isovaleric acidemia is a lifelong condition, with proper management and early intervention, individuals with this disorder can lead relatively normal lives.