Fumarate hydratase deficiency is a rare genetic disorder caused by mutations in the FH gene, which is responsible for producing the enzyme fumarate hydratase. This enzyme plays a crucial role in the Krebs cycle, a key metabolic pathway that helps generate energy in cells. When this enzyme is deficient, it can lead to the accumulation of fumarate, causing various health issues. Individuals with fumarate hydratase deficiency may experience symptoms such as developmental delays, neurological problems, and an increased risk of certain tumors. Diagnosis typically involves genetic testing and biochemical analysis. Early detection and management are essential for improving outcomes and quality of life.