Ftalattia

Ftalattia is a rare genetic disorder characterized by the absence of the enzyme farnesyltransferase, which is responsible for the synthesis of farnesyl pyrophosphate, a crucial intermediate in the mevalonate pathway. This deficiency leads to the accumulation of farnesyl pyrophosphate and its precursors, resulting in various clinical manifestations.

The primary symptoms of ftalattia include developmental delay, intellectual disability, and a distinctive facial appearance with a broad forehead, prominent eyes, and a small chin. Patients may also exhibit hypotonia, feeding difficulties, and recurrent infections. The disorder is typically diagnosed in infancy or early childhood through genetic testing, which reveals mutations in the FTL gene.

Ftalattia is an autosomal recessive disorder, meaning that both copies of the FTL gene must be mutated for the condition to occur. The disorder is inherited in an autosomal recessive pattern, with affected individuals inheriting one mutated copy of the gene from each parent.

There is currently no cure for ftalattia, and treatment is primarily supportive, focusing on managing symptoms and promoting growth and development. Research is ongoing to develop potential therapies for this rare genetic disorder.