Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report
Matej Lokar, Katja Jarc Georgiev, Tomaž Rus, Nadan Gregorič, Borut Peterlin, Maruša Škrjanec Pušenjak, Dejan Georgiev · 2026
Read Glutaric aciduria type 1 presenting with Parkinsonism with presynaptic dopaminergic dysfunction in an adult female: a case report by Matej Lokar, Katja Jarc Georgiev, Tomaž Rus, Nadan Gregorič, Borut Peterlin, Maruša Škrjanec Pušenjak, Dejan Georgiev (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13578042.txt.
Description
Matej Lokar and co-authors report in 2026 a rare adult case of a metabolic disorder that most often strikes infants. The disorder, called glutaric aciduria type 1, stems from flaws in a gene named GCDH. Their patient was a forty-three-year-old woman whose parkinsonism eased with levodopa.
Scans showed the brain's dopamine system was faulty before the nerve endings, a first such proof in this disorder. Gene tests found two GCDH variants, one of them extremely rare and never before tied to adult cases. The case widens what doctors should suspect when parkinsonism has no clear cause.
Catalog record
| CREATOR | Matej Lokar, Katja Jarc Georgiev, Tomaž Rus, Nadan Gregorič, Borut Peterlin, Maruša Škrjanec Pušenjak, Dejan Georgiev |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 17 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |