Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation.
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.
Di Rosa
Gabriella
G
Department of Medical and Surgical Pediatrics, Unit of Infantile Neuropsychiatry, University Hospital of Messina, Messina, Italy. gabrielladirosa@hotmail.com
Pustorino
Giuseppina
G
Spano
Maria
M
Campion
Dominique
D
Calabrò
Marilena
M
Aguennouz
Mohammed
M
Caccamo
Daniela
D
Legallic
Solenn
S
Sgro
Domenica Lucia
DL
Bonsignore
Maria
M
Tortorella
Gaetano
G
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
D011394:Proline Oxidase