Propionic acidemia (PA), an autosomal recessive inborn error of metabolism, is one of the most frequent organic acidurias. The primary defect is deficiency of the mitochondrial enzyme, propionyl-CoA carboxylase which plays a key role in the final catabolism of the branched chain amino acids, the end-products of the beta-oxidation of fatty acids, and the metabolism of the cholesterol side chains. Derangements in these pathways result in the accumulation of toxic metabolites which result in progressive end-organ dysfunction. Clinical manifestations include episodes of severe metabolic ketoacidosis, intercurrent infection, vomiting, hypotonia, convulsions, developmental delay with central nervous system involvement, gastroesophageal reflux, osteoporosis, pancreatitis, and cardiomyopathy. We present a 14-year-old girl with PA who required anesthetic care for magnetic resonance imaging (MRI) of the thoracolumbar spine. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement is discussed, and options for anesthetic care are presented.J Med Cases. 2015;6(9):420-425doi: http://dx.doi.org/10.14740/jmc2263w
展开▼
