What is Hyperprolinemia Type I

Hyperprolinemia Type I is a rare genetic disorder characterized by elevated levels of the amino acid proline in the blood and urine. It is caused by a deficiency of the enzyme proline oxidase, which is responsible for breaking down proline. This condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Symptoms: Individuals with Hyperprolinemia Type I may experience developmental delays, intellectual disability, seizures, and behavioral problems. However, some affected individuals may have no apparent symptoms.

Diagnosis: Diagnosis of Hyperprolinemia Type I is typically made through blood and urine tests that measure proline levels. Genetic testing can confirm the presence of mutations in the gene responsible for the condition.

Treatment: Currently, there is no specific treatment for Hyperprolinemia Type I. Management focuses on addressing the symptoms and providing supportive care. Regular monitoring of proline levels and close medical supervision are important.

Prognosis: The long-term outlook for individuals with Hyperprolinemia Type I varies. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more severe complications. Early diagnosis and appropriate management can help improve outcomes.