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: Gabriella Di Rosa, Giuseppina Pustorino, Maria Spano, Dominique Campion, Marilena Calabrò, Mohammed Aguennouz, Daniela Caccamo, Solenn Legallic, Domenica Lucia Sgro, Maria Bonsignore, Gaetano Tortorella
• Journal: Psychiatric genetics (Psychiatr Genet) Vol. 18 Issue 1 Pg. 40-2 (Feb 2008) ISSN: 0955-8829 [Print] England
• PMID: 18197084 (Publication Type: Journal Article)

Chemical References

• Proline Oxidase

Topics

• Adolescent
• Amino Acid Metabolism, Inborn Errors (genetics)
• Child
• Epilepsy (enzymology, genetics)
• Female
• Humans
• Infant
• Intellectual Disability (enzymology, genetics)
• Italy
• Male
• Mutation (genetics)
• Proline Oxidase (genetics)
• White People (genetics)