Perioperative Management of a Patient With Short Chain Acyl-CoA Dehydrogenase Deficiency : A Case Report

t p t ( t p a u L p f b u d a w B hort-chain acyl coenzyme A dehydrogenase deficiency SCADD) is an inborn error of mitochondrial fatty cid beta-oxidation precluding the dehydrogenaion of butyryl-CoA (C4-CoA). Clinically, signs and ymptoms of this inhibition are multiple and variable, nd include developmental delay, hyperand hypotonia, etotic hypoglycemia, and epilepsy as the most freuently reported. The diagnosis of SCADD can be conrmed through enzyme activity measurements in musle, fibroblasts, and by DNA studies. The SCADD ncoding gene, acyl-coenzyme A dehydrogenase, C-2 to -3 short (ACADS), was localized to the terminal region f the long arm of chromosome 12. Recent studies how 17 possible different mutations in patients with CADD. Two of these mutations, c.625G A and .511C T, are the most common, and correlate with linical symptoms. The diversity of phenotypic clinical ppearances of SCADD makes anesthetic care complex nd is the focus of this case report.