title: Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
abstract: 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 Italian children with HPI presenting epilepsy, mental retardation, and behavioral disorders for PRODH gene mutations, and attempted a genotype-phenotype correlation.
authors.affiliation: Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy. gabrielladirosa@hotmail.com
authors.forename: Gabriella
authors.initials: G
authors.lastname: Di Rosa
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Pustorino
authors.forename: Maria
authors.initials: M
authors.lastname: Spano
authors.forename: Dominique
authors.initials: D
authors.lastname: Campion
authors.forename: Marilena
authors.initials: M
authors.lastname: Calabrò
authors.forename: Mohammed
authors.initials: M
authors.lastname: Aguennouz
authors.forename: Daniela
authors.initials: D
authors.lastname: Caccamo
authors.forename: Solenn
authors.initials: S
authors.lastname: Legallic
authors.forename: Domenica Lucia
authors.initials: DL
authors.lastname: Sgro
authors.forename: Maria
authors.initials: M
authors.lastname: Bonsignore
authors.forename: Gaetano
authors.initials: G
authors.lastname: Tortorella
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000201:enzymology* / Q000235:genetics*; D007558:Italy; D008297:Male; D009154:Mutation / Q000235:genetics*; D011394:Proline Oxidase / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D011394:Proline Oxidase