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We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397\u2009C\u2009&gt;\u2009T (p.T466M) mutation and polymorphisms in the<jats:italic>PRODH<\/jats:italic>gene, as detected by plasma amino acid analysis and Sanger sequencing. The patient presented with short stature, carbohydrate-rich dietary preferences, and mild intellectual disability that was suggestive of a neurodevelopmental or learning disorder.<\/jats:p>","DOI":"10.1038\/s41439-021-00159-5","type":"journal-article","created":{"date-parts":[[2021,7,20]],"date-time":"2021-07-20T08:03:09Z","timestamp":1626768189000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH"],"prefix":"10.1038","volume":"8","author":[{"given":"Rina","family":"Hama","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1328-6696","authenticated-orcid":false,"given":"Jun","family":"Kido","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keishin","family":"Sugawara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiro","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,7,20]]},"reference":[{"key":"159_CR1","doi-asserted-by":"publisher","first-page":"547","DOI":"10.1016\/j.braindev.2007.01.008","volume":"29","author":"A Afenjar","year":"2007","unstructured":"Afenjar, A. et al. Early neurological phenotype in 4 children with biallelic PRODH mutations. Brain Dev. 29, 547\u2013552 (2007).","journal-title":"Brain Dev."},{"key":"159_CR2","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1097\/YPG.0b013e3282f08a3d","volume":"18","author":"G Di Rosa","year":"2008","unstructured":"Di Rosa, G. et al. Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. Psychiatr. Genet. 18, 40\u201342 (2008).","journal-title":"Psychiatr. Genet."},{"key":"159_CR3","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1097\/YPG.0000000000000037","volume":"24","author":"G Di Rosa","year":"2014","unstructured":"Di Rosa, G., Nicotera, A. G., Lenzo, P., Span\u00f2, M. & Tortorella, G. Long-term neuropsychiatric follow-up in hyperprolinemia type I. Psychiatr. Genet. 24, 172\u2013175 (2014).","journal-title":"Psychiatr. 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