NEONATAL ONSET OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY WITH CONFUSING BIOCHEMICAL FEATURES

A female neonate was seen because of shock, ketosis, and undetectable blood glucose, Initial urinary findings indicated the possibility of a defect of fatty acid beta-oxidation; subsequent studies showed thai s he had medium-chain acylcoenzyme A dehydrogenase deficiency, This case highlights the fact that the initial symptoms may occur in the first few days of life, and that the presence of ketosis does not exclude th e possibility of a fatty acid oxidation defect; the profiles of urinar y organic acids and acylglycines may not be characteristic at that tim e.