Hyperprolinemia Type I synonyms

Hyperprolinemia Type I is a metabolic disorder characterized by elevated levels of proline, an amino acid, in the blood and urine. This condition is also known by several other names, including:

• Proline dehydrogenase deficiency: This term refers to the underlying genetic defect causing hyperprolinemia Type I. It is caused by mutations in the PRODH gene, which encodes the enzyme proline dehydrogenase.


• Proline oxidase deficiency: Another name for hyperprolinemia Type I, highlighting the deficiency of the enzyme proline oxidase, which is responsible for breaking down proline.


• Proline metabolic disorder: This term encompasses all disorders related to abnormal proline metabolism, including hyperprolinemia Type I.


• Hyperprolinemia type I deficiency: A descriptive term indicating the lack or deficiency of proline metabolism in this specific type of hyperprolinemia.

Hyperprolinemia Type I is an autosomal recessive disorder, meaning that an affected individual inherits two copies of the mutated PRODH gene, one from each parent. The elevated proline levels in the body can lead to various symptoms and complications, including intellectual disability, seizures, behavioral problems, and developmental delays.

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 PRODH gene. Although there is no cure for this condition, management strategies focus on reducing proline levels through dietary modifications and supplementation with vitamin B6, which helps in proline metabolism.

It is important for individuals with hyperprolinemia Type I to receive appropriate medical care and support. Regular monitoring and early intervention can help manage symptoms and improve overall quality of life.