دورية أكاديمية
Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency
| العنوان: | Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency |
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| المؤلفون: | J. Flowers, G. Veneziano, G. Cambier, J. D. Tobias |
| المصدر: | Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 12, Iss 1, Pp 1-5 (2024) |
| بيانات النشر: | Pediatric Anesthesia and Critical Care Journal, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Pediatrics LCC:Anesthesiology |
| مصطلحات موضوعية: | succinic semialdehyde dehydrogenase deficiency, gamma-aminobutyric acid, pediatric anesthesiology, sei- zures, Pediatrics, RJ1-570, Anesthesiology, RD78.3-87.3 |
| الوصف: | Succinic semialdehyde dehydrogenase (SSADH) defi- ciency is an uncommon autosomal recessive disorder that affects the degradation of gamma-aminobutyric acid (GABA) within the central nervous system (CNS). Clin- ical manifestations generally present during infancy in- cluding hypotonia, developmental delay, cognitive im- pairment, expressive language deficits, and ataxia. Sei- zures are a hallmark of the disorder, being present in ap- proximately half of affected individuals. Given the multi- system involvement of these patients with a high inci- dence of associated seizures, anesthetic care may be re- quired for diagnostic imaging or therapeutic interven- tions. We present a 23-year-old woman with SSADH de- ficiency who required anesthetic care during dental sur- gery. The basic pathophysiology and inheritance of SSADH is presented, clinical manifestations and end-or- gan involvement reviewed, and potential anesthetic im- plications outlined. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2281-8421 |
| Relation: | http://www.anestesiarianimazione.com/PACCJ%202024/Anesthetic%20care%20of%20a%20patient%20with%20succinic%20sem%20aldehyde%20%20dehydrogenase%20deficiency%20.pdf; https://doaj.org/toc/2281-8421 |
| DOI: | 10.14587/paccj.2024.1 |
| URL الوصول: | https://doaj.org/article/435b46a23f8d4580b5df3cd6b689300f |
| رقم الأكسشن: | edsdoj.435b46a23f8d4580b5df3cd6b689300f |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22818421 |
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| DOI: | 10.14587/paccj.2024.1 |