Glutaric aciduria type 1 – the mask cerebral palsy (case report)
We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease, its mimicry of neonatal hypoxic-isch...
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| Format: | Article |
| Language: | Russian |
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ABV-press
2024-01-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/577 |
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| author | D. V. I G. E. Shcherbakov V. A. Duplishcheva S. A. Seregin D. D. Gaynetdinova |
| author_facet | D. V. I G. E. Shcherbakov V. A. Duplishcheva S. A. Seregin D. D. Gaynetdinova |
| author_sort | D. V. I |
| collection | DOAJ |
| description | We report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease, its mimicry of neonatal hypoxic-ischemic encephalopathy and cerebral palsy. The timeliness of early diagnosis and initiation of specific therapy makes it possible to improve the condition of patients. |
| format | Article |
| id | doaj-art-22d5a677ed434308a021d58dd7edf9a2 |
| institution | Kabale University |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2024-01-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-22d5a677ed434308a021d58dd7edf9a22025-08-20T03:37:51ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-01-0113410.17650/2222-8721-2023-13-4-97-102368Glutaric aciduria type 1 – the mask cerebral palsy (case report)D. V. I0G. E. Shcherbakov1V. A. Duplishcheva2S. A. Seregin3D. D. Gaynetdinova4Khabarovsk Center for the Development of Psychology and Childhood “Psylogy”; Far Eastern State Medical University, Ministry of Health of RussiaFar Eastern State Medical University, Ministry of Health of RussiaFar Eastern State Medical University, Ministry of Health of RussiaLLC “Clinic Expert Khabarovsk”Kazan State Medical University, Ministry of Health of RussiaWe report an 8-year-old patient with glutaric aciduria type 1 associated with compound heterozygous mutations c.1204C>T (p.Arg402Trp) and c.547C>T (p.Ser216Leu) in GCDH. Clinical case illustrates the difficulty in diagnosing this hereditary disease, its mimicry of neonatal hypoxic-ischemic encephalopathy and cerebral palsy. The timeliness of early diagnosis and initiation of specific therapy makes it possible to improve the condition of patients.https://nmb.abvpress.ru/jour/article/view/577glutaric aciduriagcdh genecerebral palsyencephalic crisis |
| spellingShingle | D. V. I G. E. Shcherbakov V. A. Duplishcheva S. A. Seregin D. D. Gaynetdinova Glutaric aciduria type 1 – the mask cerebral palsy (case report) Нервно-мышечные болезни glutaric aciduria gcdh gene cerebral palsy encephalic crisis |
| title | Glutaric aciduria type 1 – the mask cerebral palsy (case report) |
| title_full | Glutaric aciduria type 1 – the mask cerebral palsy (case report) |
| title_fullStr | Glutaric aciduria type 1 – the mask cerebral palsy (case report) |
| title_full_unstemmed | Glutaric aciduria type 1 – the mask cerebral palsy (case report) |
| title_short | Glutaric aciduria type 1 – the mask cerebral palsy (case report) |
| title_sort | glutaric aciduria type 1 the mask cerebral palsy case report |
| topic | glutaric aciduria gcdh gene cerebral palsy encephalic crisis |
| url | https://nmb.abvpress.ru/jour/article/view/577 |
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