hyperprolinemia

Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by the enzymes proline oxidase or pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in the body.

==Presentation== The clinical features of hyperprolinemia are unclear. Nephropathy, uncontrolled seizures, intellectual disabilities, and schizophrenia have been reported in hyperprolinemia I (mutation of PRODH gene), but a benign phenotype without neurological problems has also been reported. An evidence suggests that hyperprolinemia II (mutation of ALDH4A1 gene) might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. Severity and manifestations of hyperprolinemia depending on the nature and number of hits affecting the gene locus.