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Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia
Abstract
In gyrate atrophy of the choroid and retina with hyperornithinaemia (GA), a genetically determined deficiency of ornithine delta-aminotransferase activity leads to high ornithine concentrations in body fluids. GA is characterized by centripetally progressing retinal and choroidal destruction and selective atrophy with tubular aggregates in type II skeletal muscle fibres. These findings have been suggested to be mediated by hyperornithinaemia-induced deficiency of high-energy creatine phosphate. As abnormal brain magnetic resonance images and electroencephalograms are found in another disorder of creatine metabolism, guanidinoacetate methyltransferase deficiency, we investigated the central nervous system involvement in GA, which seems to be associated with a milder degree of phosphocreatine deficiency. We compared 23 untreated GA patients with age-matched healthy controls, and with 9 patients who had received creatine or creatine precursor supplementation daily for several years. The mean age of the patients (32 +/- 18 years) was similar to that of the controls (36 +/- 22 years). The MRI or EEG findings of the patients on creatine supplementation did not differ from those of the untreated group. Brain MRI revealed degenerative lesions in the white matter in 50% of the GA patients, and 70% of the patients had premature atrophic changes, with a striking increase in the number of Virchow's spaces. Of the patients whose EEG was recorded, 58% had abnormal slow background activity, focal lesions or high-amplitude beta rhythm (> 50 microV). The EEG findings were not associated with the MRI changes or with the age or the sex of the patients. Early degenerative and atrophic brain changes and abnormal EEG are thus features of GA, in addition to the well-characterized eye and muscle manifestations.
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Results from studies spanning up to 72 months in gyrate atrophy patients indicate that creatine supplementation can slow disease progression while also helping to maintain levels of type II skeletal muscle fiber content.
“Results from studies spanning up to 72 months in this patient population indicate that creatine supplementation can slow disease progression while also helping to maintain levels of type II skeletal muscle fiber content [68,69].”
From Creatine Supplementation in Children and Adolescents (2021) · cites this paper as [68]
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Metadata
- Authors
- Valtonen, M., Näntö‐Salonen, K., Jääskeläinen, S., Heinänen, K., Alanen, A., Heinonen, O. J., Lundbom, N., Erkintalo, M., & Simell, O.
- Affiliations
- University of Turku (FI)
- Sports and Exercise Medicine Unit, Department of Physiology University of Turku Turku Finland
- Venue
- Journal of Inherited Metabolic Disease
- Publisher
- Wiley
- Published
- 1999-12
- Volume
- 22
- Issue
- 8
- Pages
- 855-866
- ISSN
- 0141-8955 (ISSN-L)
- 1573-2665
- OpenAlex
- W215452445
- Cited by
- 46
- References
- 46
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 7 · 2020: 2 · 2017: 2 · 2016: 2 · 2015: 1 · 2014: 2 · 2013: 3
- FWCI
- 0.71
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Journal of Inherited Metabolic Disease (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Signe ja Ane Gyllenbergin Säätiö
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- gyrate atrophy of the choroid and retina, central nervous system involvement, white matter degeneration, creatine supplementation, creatine metabolism, guanidinoacetate methyltransferase deficiency, EEG abnormalities, brain MRI
- MeSH terms
- Adolescent, Adult, Aged, Brain, Central Nervous System, Child, Child, Preschool, Choroid, Creatine, Electroencephalography, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Ornithine, Ornithine-Oxo-Acid Transaminase, Retina, Gyrate Atrophy
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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