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Late- and adult-onset forms are rare and may manifest with nonspecific neurological features. We describe a 43-year-old woman with levodopa-responsive parkinsonism and presynaptic dopaminergic dysfunction. Genetic analysis revealed compound heterozygous\n                    <jats:italic>GCDH<\/jats:italic>\n                    variants, consistent with GA1. One of the reported variants (c.1178G\u2009&gt;\u2009A, p. Gly393Glu) is extremely rare and has never been associated with adult-diagnosed GA1 with atypical features. Furthermore, this is the first report of GA1 patient presenting with parkinsonism in whom we demonstrated presynaptic dopaminergic dysfunction, along with a favorable response to levodopa.\n                  <\/jats:p>","DOI":"10.1007\/s10048-026-00940-0","type":"journal-article","created":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T06:37:34Z","timestamp":1789454254000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report"],"prefix":"10.1007","volume":"27","author":[{"given":"Matej","family":"Lokar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katja Jarc","family":"Georgiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toma\u017e","family":"Rus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadan","family":"Gregori\u010d","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maru\u0161a \u0160krjanec","family":"Pu\u0161enjak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1832-3441","authenticated-orcid":false,"given":"Dejan","family":"Georgiev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,15]]},"reference":[{"key":"940_CR1","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1002\/jimd.12566","volume":"46","author":"N Boy","year":"2023","unstructured":"Boy N, M\u00fchlhausen C, Maier EM et al (2023) Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision. 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Written informed consent for video recording, use and publication of the patient\u2019s videos was obtained.","order":1,"name":"Ethics","label":"Ethical approval","group":{"name":"EthicsHeading","label":"Declaration"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declaration"}}],"article-number":"70"}}