期刊
PSYCHIATRIC GENETICS
卷 18, 期 1, 页码 40-42出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/YPG.0b013e3282f08a3d
关键词
behavioral disorders; epilepsy; hyperprolinemia type 1; mental retardation; PRODH genotype
Type 1 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.
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