{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T16:07:07Z","timestamp":1771603627814,"version":"3.50.1"},"reference-count":13,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,8]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>Phenylketonuria (PKU) is an inborn error of amino acid metabolism. If untreated, PKU can result in global developmental delay, learning difficulties or seizures. For that reason, PKU is included in the UK neonatal screening programme. We describe a patient in his sixth decade presenting with progressive cognitive decline and spasticity, in whom a diagnosis of PKU was eventually reached. We note that although we currently have a robust neonatal screening programme, this has not always been the case. Patients born before 1969 were not screened, and tests used in early screening programmes were less sensitive than those used today. This case serves as a reminder that inherited metabolic disorders may present in later life and may mimic the neurocognitive and radiological picture of other white matter syndromes.<\/jats:p>","DOI":"10.1136\/bcr-2023-256053","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T12:50:20Z","timestamp":1708519820000},"page":"e256053","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["A treatable inborn error of metabolism presenting in the sixth decade"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3600-4527","authenticated-orcid":false,"given":"Sarah-Jane","family":"Martin","sequence":"first","affiliation":[{"name":"NHS Greater Glasgow and Clyde, Institute of Neurological Sciences, Glasgow, UK"},{"name":"University of Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Davidson","sequence":"additional","affiliation":[{"name":"NHS Greater Glasgow and Clyde, Institute of Neurological Sciences, Glasgow, UK"},{"name":"University of Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheena","family":"Murdoch","sequence":"additional","affiliation":[{"name":"Department of Neurology, Raigmore Hospital, Inverness, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johann","family":"Selvarajah","sequence":"additional","affiliation":[{"name":"NHS Greater Glasgow and Clyde, Institute of Neurological Sciences, Glasgow, UK"},{"name":"University of Glasgow, Glasgow, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,2,21]]},"reference":[{"key":"2025082712052894000_17.2.e256053.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.006"},{"key":"2025082712052894000_17.2.e256053.2","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0685-2","article-title":"The complete European guidelines on phenylketonuria: diagnosis and treatment","volume":"12","author":"van Wegberg","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"2025082712052894000_17.2.e256053.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-014-7492-7"},{"key":"2025082712052894000_17.2.e256053.4","doi-asserted-by":"publisher","DOI":"10.1148\/rg.2016160031"},{"key":"2025082712052894000_17.2.e256053.5","unstructured":"Biopku.org. n.d. 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