Anesthetic care of a patient with succinic semi-aldehyde dehydrogenase deficiency

• Main Authors: J. Flowers (Author), G. Veneziano (Author), G. Cambier (Author), J. D. Tobias (Author)
• Format: Book
• Published: Pediatric Anesthesia and Critical Care Journal, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.14587/paccj.2024.1; 2281-8421
• Keywords: succinic semialdehyde dehydrogenase deficiency; gamma-aminobutyric acid; pediatric anesthesiology; sei- zures; Pediatrics; RJ1-570; Anesthesiology; RD78.3-87.3
• Source: Pediatric Anesthesia and Critical Care Journal (PACCJ), Vol 12, Iss 1, Pp 1-5 (2024)

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.