LETHAL NEONATAL MULTIORGAN DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE-II

IN adults, deficiency of carnitine palmitoyltransferase (CPT) II is a genetic disorder characterized by exercise intolerance and myoglobinuria.1 2 In newborns, it is a generalized, lethal disease with reduced CPT II activity in multiple organs, reduced concentrations of total and free carnitine, and increased concentrations of lipids and long-chain acylcarnitines.3 The clinical severity of CPT II deficiency is not determined by the degree of the reduction in CPT II activity, since this reduction is of similar magnitude in adults, young children, and newborns.1 2 3 4 5 However, lethal CPT II deficiency is associated with an accumulation of arrhythmogenic long-chain acylcarnitines,6 7 as in the patient. . . © 1991, Massachusetts Medical Society. All rights reserved.