Fasat

Fasat, also known as fasatid, is a rare genetic disorder characterized by the absence of the enzyme farnesyltransferase. This enzyme is crucial for the synthesis of cholesterol and other isoprenoid compounds, which are essential for various cellular processes. Individuals with fasatid typically present with severe neurological symptoms, including hypotonia, developmental delay, and intellectual disability. The disorder is inherited in an autosomal recessive manner, meaning that both copies of the gene responsible for farnesyltransferase must be mutated for the condition to occur. Diagnosis of fasatid is typically made through genetic testing, which can identify mutations in the FTL gene. There is currently no cure for fasatid, and treatment focuses on managing symptoms and supporting affected individuals. Research into the underlying mechanisms of the disorder and potential therapeutic interventions is ongoing.