{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:41Z","timestamp":1783012661572,"version":"3.54.6"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T00:00:00Z","timestamp":1775347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T00:00:00Z","timestamp":1775347200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining \u2264\u2009360\u2009\u03bcmol\/L (6\u2009mg\/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels &gt;\u2009360\u2009\u03bcmol\/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This study aimed to identify risk factors for elevation of Phe &gt;\u2009360\u2009\u03bcmol\/L and the long\u2010term outcome of bHPA. Retrospective chart review at a single center identified thirty\u2010four individuals with bHPA. Among this group, twelve individuals ultimately demonstrated Phe levels &gt;\u2009360\u2009\u03bcmol\/L, thus defined as \u201cRisers\u201d, as opposed to the \u201cNon\u2010Risers\u201d that remained within bHPA range. Mean Phe level at first newborn screen (NBS) was higher in the Risers group. Clinical assessment pointed to developmental or behavioral issues in two\u2010thirds of the Risers, whereas all Non\u2010Risers had typical development. Our data suggest that bHPA may be associated with increased risk for neurodevelopmental complications among individuals who eventually developed Phe levels &gt;\u2009360\u2009\u03bcmol\/L. This study emphasizes that individuals with bHPA should be closely followed to track Phe levels and development.<\/jats:p>","DOI":"10.1002\/ajmg.a.70154","type":"journal-article","created":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T04:24:53Z","timestamp":1775449493000},"page":"1814-1820","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5342-9957","authenticated-orcid":false,"given":"Aaron","family":"Williams","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristian","family":"Divin","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay C.","family":"Burrage","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Craigen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3502-8460","authenticated-orcid":false,"given":"Fernando","family":"Scaglia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"},{"name":"Joint BCM\u2010CUHK Center of Medical Genetics, Prince of Wales Hospital  Hong Kong SAR China"},{"name":"Baylor Genetics  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Soler\u2010Alfonso","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6450-8554","authenticated-orcid":false,"given":"V. 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