Article
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
Psychiatric genetics - 1 Feb 2008
Di Rosa Gabriella, Pustorino Giuseppina, Spano Maria, Campion Dominique, Calabrò Marilena, Aguennouz Mohammed, Caccamo Daniela, Legallic Solenn, Sgro Domenica Lucia, Bonsignore Maria, Tortorella Gaetano
Abstract excerpt
Type I hyperprolinemia (HPI) is an autosomal recessive disorder caused by proline oxidase deficiency. This enzyme is encoded by the proline dehydrogenase (PRODH) gene on 22q11. The functional consequences of different PRODH mutations on proline oxidase activity have been characterized in vitro. Few patients with HPI with epilepsy and cognitive/behavioral disturbances have been described so far. We screened four...
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