ABSTRACT
Ethylmalonic aciduria (Figure 109.1) is most commonly encountered in what has been termed ethylmalonic-adipic aciduria in less severe forms of glutaric aciduria Type II, or multiple acylCoA dehydrogenase deficiency, which is due to deficiency in electron transport flavoprotein (ETF) or ETF dehydrogenase [1-3] (Chapter 45). It is also encountered in short chain acylCoA dehydrogenase (SCAD) deficiency (Figure 109.1) [4]. These patients present with hypoketotic hypoglycemia, myopathic weakness or cardiomyopathy, characteristics of disorders of fatty acid oxidation (Chapter 45).
