Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency
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...
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| Format: | Article |
| Language: | English |
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Pediatric Anesthesia and Critical Care Journal
2024-01-01
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| Series: | Pediatric Anesthesia and Critical Care Journal (PACCJ) |
| Subjects: | |
| Online Access: | http://www.anestesiarianimazione.com/PACCJ%202024/Anesthetic%20care%20of%20a%20patient%20with%20succinic%20sem%20aldehyde%20%20dehydrogenase%20deficiency%20.pdf |
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| author | J. Flowers G. Veneziano G. Cambier J. D. Tobias |
| author_facet | J. Flowers G. Veneziano G. Cambier J. D. Tobias |
| author_sort | J. Flowers |
| collection | DOAJ |
| description | 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.
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| first_indexed | 2024-03-08T11:30:55Z |
| format | Article |
| id | doaj.art-435b46a23f8d4580b5df3cd6b689300f |
| institution | Directory Open Access Journal |
| issn | 2281-8421 |
| language | English |
| last_indexed | 2024-03-08T11:30:55Z |
| publishDate | 2024-01-01 |
| publisher | Pediatric Anesthesia and Critical Care Journal |
| record_format | Article |
| series | Pediatric Anesthesia and Critical Care Journal (PACCJ) |
| spelling | doaj.art-435b46a23f8d4580b5df3cd6b689300f2024-01-25T21:27:36ZengPediatric Anesthesia and Critical Care JournalPediatric Anesthesia and Critical Care Journal (PACCJ)2281-84212024-01-011211510.14587/paccj.2024.1Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency J. Flowers0G. Veneziano1G. Cambier2J. D. Tobias3Department of Anesthesiology and Pain Medicine, The Ohio State University College of Medicine, Columbus, Ohio, USADepartment of Anesthesiology and Pain Medicine, Nationwide Children’s Hospital, Columbus, Ohio, USADepartment of Anesthesiology and Pain Medicine, Nationwide Children’s Hospital, Columbus, Ohio, USADepartment of Anesthesiology and Pain Medicine, Nationwide Children’s Hospital, Columbus, Ohio, USASuccinic 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. http://www.anestesiarianimazione.com/PACCJ%202024/Anesthetic%20care%20of%20a%20patient%20with%20succinic%20sem%20aldehyde%20%20dehydrogenase%20deficiency%20.pdfsuccinic semialdehyde dehydrogenase deficiency; gamma-aminobutyric acid; pediatric anesthesiology; sei- zures |
| spellingShingle | J. Flowers G. Veneziano G. Cambier J. D. Tobias Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency Pediatric Anesthesia and Critical Care Journal (PACCJ) succinic semialdehyde dehydrogenase deficiency; gamma-aminobutyric acid; pediatric anesthesiology; sei- zures |
| title | Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency |
| title_full | Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency |
| title_fullStr | Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency |
| title_full_unstemmed | Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency |
| title_short | Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency |
| title_sort | anesthetic care of a patient with succinic semi aldehyde dehydrogenase deficiency |
| topic | succinic semialdehyde dehydrogenase deficiency; gamma-aminobutyric acid; pediatric anesthesiology; sei- zures |
| url | http://www.anestesiarianimazione.com/PACCJ%202024/Anesthetic%20care%20of%20a%20patient%20with%20succinic%20sem%20aldehyde%20%20dehydrogenase%20deficiency%20.pdf |
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