Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome

Abstract

Disorders of fatty acid metabolism due to deficiencies of several acylcoenzyme A dehydrogenases (glutaric aciduria, type II) or to a more specific deficiency of a single acylcoenzyme A dehydrogenase2 have recently aroused great interest. These enzymes play a part in β oxidation of fatty acids in mitochondria, and disorders resulting from their deficiency may present clinically as an illness resembling Reye's syndrome, manifesting the pathological changes seen in that syndrome. Deficiencies of acylcoenzyme A enzymes are thought to be inherited as an autosomal recessive trait. We report on a boy, initially considered to be a victim of the sudden infant death syndrome, in whom pathological examination suggested Reye's syndrome. Subsequent evaluation, however, showed the absence of medium chain fatty acylcoenzyme A dehydrogenase as a single defect of mitochondrial enzymes.