Hyperprolinemia Type II is a rare genetic disorder characterized by elevated levels of proline, an amino acid, in the blood and urine. It is caused by a deficiency of the enzyme pyrroline-5-carboxylate dehydrogenase (P5CDH), which is responsible for breaking down proline. This autosomal recessive condition is typically diagnosed in infancy or early childhood.
Symptoms: Individuals with Hyperprolinemia Type II may experience intellectual disability, developmental delay, seizures, and behavioral problems. However, the severity of symptoms can vary widely among affected individuals.
Diagnosis: Diagnosis of Hyperprolinemia Type II involves measuring proline levels in the blood and urine, as well as genetic testing to identify mutations in the P5CDH gene.
Treatment: Currently, there is no specific treatment for Hyperprolinemia Type II. Management mainly focuses on addressing the symptoms and providing supportive care. Regular monitoring of proline levels and close medical supervision are essential.
Prognosis: The long-term outlook for individuals with Hyperprolinemia Type II varies. Some individuals may have mild symptoms and lead relatively normal lives, while others may experience more significant challenges.
It is important for individuals with Hyperprolinemia Type II to work closely with healthcare professionals to develop an appropriate care plan and receive necessary support.