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Psychiatr Genet. 2008 Feb;18(1):40-2. doi: 10.1097/YPG.0b013e3282f08a3d.

Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.

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1
Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy. gabrielladirosa@hotmail.com

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.

PMID:
18197084
DOI:
10.1097/YPG.0b013e3282f08a3d
[Indexed for MEDLINE]
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