Threoninu

Threoninu is a rare genetic disorder characterized by the accumulation of threonine, an amino acid, in the body. It is caused by a deficiency in the enzyme threonine dehydratase, which is responsible for converting threonine into 2-amino-2-deoxybutyrate. This deficiency leads to the buildup of threonine in various tissues, including the brain, liver, and kidneys. The exact prevalence of threoninu is unknown, but it is considered to be very rare.

Symptoms of threoninu typically begin in infancy or early childhood and may include developmental delays, seizures, and movement disorders. In severe cases, the disorder can lead to intellectual disability and progressive neurological deterioration. The diagnosis of threoninu is usually made through genetic testing, which identifies mutations in the THD7A gene, which encodes threonine dehydratase.

There is currently no cure for threoninu, and treatment is primarily supportive. Management focuses on controlling symptoms and preventing complications. This may include anticonvulsant medications to manage seizures, physical therapy to address movement disorders, and dietary modifications to reduce threonine intake. In some cases, a low-threonine diet may be recommended to help manage the buildup of threonine in the body. Research into potential therapies for threoninu is ongoing, with a focus on developing enzyme replacement therapies or gene therapies to restore normal threonine metabolism.