ABSTRACT
Short-chain acyl CoA dehydrogenase (SCAD) deficiency is a rare disorder of fatty acid oxidation. Clinical manifestations have been varied, but most patients have presented in the neonatal period with failure to thrive, hypotonia and/or metabolic acidosis [1-4]. Most have had delayed development. On the other hand, one of the earliest reported patients was an adult with a myopathic presentation [5,6]. The hallmark urinary metabolite is ethylmalonic acid, but it is not found with consistency in the urine, and it is found in other conditions (Chapters 45 and 109).
