{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:17:29Z","timestamp":1789179449851,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":54,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,8]]},"abstract":"Abstract<\/jats:title>There are two classifications of hereditary hyperprolinemia: type I<\/jats:styled-content> (HPI<\/jats:styled-content>) and type II<\/jats:styled-content> (HPII<\/jats:styled-content>). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI<\/jats:styled-content> is caused by an abnormality in the proline\u2010oxidizing enzyme (POX<\/jats:styled-content>). HPII<\/jats:styled-content> is caused by a deficiency of \u0394\u20101\u2010pyrroline\u20105\u2010carboxylate (P5C<\/jats:styled-content>) dehydrogenase (P5CDh<\/jats:styled-content>). The clinical features of HPI<\/jats:styled-content> are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI<\/jats:styled-content>, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII<\/jats:styled-content> are also unclear. In addition, the precise incidences of HPI<\/jats:styled-content> and HPII<\/jats:styled-content> are unknown. Only two cases of HPI<\/jats:styled-content> and one case of HPII<\/jats:styled-content> have been identified in J<\/jats:styled-content>apan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in J<\/jats:styled-content>apan, consistent with earlier reports in Western countries. The one case of HPII<\/jats:styled-content> found in J<\/jats:styled-content>apan was diagnosed in an individual with influenza\u2010associated encephalopathy. This suggests that HPII<\/jats:styled-content> might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza\u2010associated encephalopathy. The current study presents diagnostic criteria for HPI<\/jats:styled-content> and HPII<\/jats:styled-content>, based on plasma proline level, with or without measurements of urinary P5C<\/jats:styled-content>. In the future, screening for HPI<\/jats:styled-content> and HPII<\/jats:styled-content> in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important.<\/jats:p>","DOI":"10.1111\/ped.12420","type":"journal-article","created":{"date-parts":[[2014,6,17]],"date-time":"2014-06-17T00:18:39Z","timestamp":1402964319000},"page":"492-496","source":"Crossref","is-referenced-by-count":43,"title":["Biochemical and clinical features of hereditary hyperprolinemia"],"prefix":"10.1111","volume":"56","author":[{"given":"Hiroshi","family":"Mitsubuchi","sequence":"first","affiliation":[{"name":"Department of Neonatology Kumamoto University Hospital Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medicine Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shirou","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medicine Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Endo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kumamoto University Graduate School of Medicine Kumamoto Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,9,24]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"1821","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Phang JM","year":"2001"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/138.10.2016S"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196207122670201"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(64)92605-4"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196506172722401"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1968.tb04682.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1968.tb00573.x"},{"key":"e_1_2_8_9_1","first-page":"554","article-title":"Hyperprolinemia: Clinical and biochemical family study","volume":"44","author":"Woody NC","year":"1969","journal-title":"Pediatrics"},{"key":"e_1_2_8_10_1","first-page":"165","article-title":"Type I hyperprolinemia. Study of a familial case","volume":"25","author":"Fontaine G","year":"1970","journal-title":"Helv. Paediatr. Acta"},{"key":"e_1_2_8_11_1","first-page":"945","article-title":"Familial essential hyperprolinemia","volume":"79","author":"Hainaut H","year":"1971","journal-title":"Presse Med."},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000392676"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80230-6"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02024332"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380101600820"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050589"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799254"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.19.2243"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.e7"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl443"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2007.01.008"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.67.2.167"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21296"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.185.4156.1053"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.9.1411"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.64.12.1699"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/428142"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1203244109"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/biof.1036"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0048-3"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchromb.2007.03.031"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.151.465"},{"key":"e_1_2_8_33_1","first-page":"81","article-title":"A case of type I hyperprolinemia associated with photogenic epilepsy","volume":"23","author":"Ishikawa Y","year":"1991","journal-title":"No To Hattatsu"},{"key":"e_1_2_8_34_1","first-page":"31","article-title":"Identification of PRODH mutations in Korean neonates with type I hyperprolinemia","volume":"43","author":"Jang MA","year":"2013","journal-title":"Ann. Clin. Lab. Sci."},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.46.245.72"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M010860200"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.82.3.236"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9660-9"},{"key":"e_1_2_8_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-011-9246-x"}],"container-title":["Pediatrics International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fped.12420","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12420","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ped.12420","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ped.12420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T11:23:07Z","timestamp":1695986587000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ped.12420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8]]},"references-count":38,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["10.1111\/ped.12420"],"URL":"https:\/\/doi.org\/10.1111\/ped.12420","archive":["Portico"],"relation":{},"ISSN":["1328-8067","1442-200X"],"issn-type":[{"value":"1328-8067","type":"print"},{"value":"1442-200X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8]]}}}