Perioperative Management of a Child With Short-Chain Acyl-CoA Dehydrogenase Deficiency
Document Type
Article
Publication Title
Pediatric Anesthesia
Abstract
Short-chain acyl-CoA dehydrogenase (SCAD) is a mitochondrial enzyme that catalyzes the dehydrogenation of short chain fatty acids (4 to 6 carbons in length) thereby initiating the cycle of beta-oxidation. This process generates acetyl-CoA, the key substrate for hepatic ketogenesis or ATP production by the Kreb's cycle. A deficiency of SCAD results in the build-up of potentially cytotoxic metabolites including ethylmalonic acid, methylsuccinyl CoA and butyryl-carnitine. The end-organ involvement is heterogeneous, but most commonly includes hypotonia with possible lipid myopathy and developmental delay. Other reported complications include dysmorphic craniofacial features, hypoglycemia, seizures, scoliosis, hypertonia and hyperreflexia, cyclic vomiting and myocardial dysfunction. We present a 23-month-old girl with SCAD deficiency, who required posterior fossa decompression for type 1 Chiari malformation. The potential perioperative implications of SCAD deficiency are reviewed.
DOI
10.1111/j.1460-9592.2005.01507.x
Publication Date
9-2005
ISSN
1460-9592
Recommended Citation
Turpin B, Tobias JD. Perioperative Management of a Child With Short-Chain Acyl-CoA Dehydrogenase Deficiency. Pediatric Anesthesia. 2005; 15(9). doi: 10.1111/j.1460-9592.2005.01507.x.
