{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T01:50:11Z","timestamp":1769046611189,"version":"3.49.0"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Pract Neurol"],"accepted":{"date-parts":[[2023,12,10]]},"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:p>Arginine:glycine amidinotransferase (AGAT) deficiency is an ultrarare disorder of creatine metabolism, presenting with developmental delay, characteristic biochemical findings and muscle weakness. Most known cases have been identified and treated in early childhood. We describe a 27-year-old woman with learning difficulties and significant myopathy who was diagnosed through genetic investigation in adulthood. Treatment with creatine (10\u201315 g\/day) led to a significant and rapid improvement of muscle strength. A literature review of the few reported adult cases confirms that progressive myopathy is a prominent feature that responds well to creatine supplementation. AGAT deficiency, a partially treatable condition, should be considered in the differential diagnosis of a genetic myopathy, particularly in people with developmental delay and progressive myopathy.<\/jats:p>","DOI":"10.1136\/pn-2023-003954","type":"journal-article","created":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T13:25:20Z","timestamp":1707830720000},"page":"413-416","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy"],"prefix":"10.1136","volume":"24","author":[{"given":"Yael","family":"Finezilber","sequence":"first","affiliation":[{"name":"Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Massey","sequence":"additional","affiliation":[{"name":"Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK"},{"name":"Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jessica A","family":"Radley","sequence":"additional","affiliation":[{"name":"London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6302-9279","authenticated-orcid":false,"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,2,13]]},"reference":[{"key":"2025090409573587000_24.5.413.1","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1016\/j.ejpn.2018.08.001","article-title":"Functional assessment tools in children with pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care","volume":"22","author":"Ricci","year":"2018","journal-title":"European Journal of Paediatric Neurology"},{"key":"2025090409573587000_24.5.413.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.10.003"},{"key":"2025090409573587000_24.5.413.3","doi-asserted-by":"publisher","DOI":"10.1086\/323765"},{"key":"2025090409573587000_24.5.413.4","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1212\/WNL.0b013e3181e7cabd","article-title":"Arginine:glycine Amidinotransferase deficiency: a treatable metabolic Encephalomyopathy","volume":"75","author":"Verma","year":"2010","journal-title":"Neurology"},{"key":"2025090409573587000_24.5.413.5","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ymgme.2012.01.017","article-title":"Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine Amidinotransferase deficiency","volume":"106","author":"Ndika","year":"2012","journal-title":"Mol Genet Metab"},{"key":"2025090409573587000_24.5.413.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.06.021"},{"key":"2025090409573587000_24.5.413.7","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0577-5","article-title":"Fifteen- year follow-up of Italian families affected by arginine glycine Amidinotransferase deficiency","volume":"12","author":"Battini","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"2025090409573587000_24.5.413.8","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19990301)85:5<1186::AID-CNCR24>3.0.CO;2-N"},{"key":"2025090409573587000_24.5.413.9","doi-asserted-by":"publisher","DOI":"10.1007\/s11136-011-9903-x"}],"container-title":["Practical Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/pn-2023-003954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,4]],"date-time":"2025-09-04T16:57:44Z","timestamp":1757005064000},"score":1,"resource":{"primary":{"URL":"https:\/\/pn.bmj.com\/lookup\/doi\/10.1136\/pn-2023-003954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,13]]},"references-count":9,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,9,13]]},"published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1136\/pn-2023-003954"],"URL":"https:\/\/doi.org\/10.1136\/pn-2023-003954","relation":{},"ISSN":["1474-7758","1474-7766"],"issn-type":[{"value":"1474-7758","type":"print"},{"value":"1474-7766","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,13]]}}}