LETHAL NEONATAL DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE-II ASSOCIATED WITH DYSGENESIS OF THE BRAIN AND KIDNEYS

We describe neonatal onset of a lethal multiorgan deficiency of carnit ine palmitoyltransferase II (CPT II) associated with dysmorphic featur es, cardiomyopathy, and cystic dysplasia of the brain and kidneys, Con centrations of long-chain acylcarnitines were elevated in blood and mu ltiple tissues, diffuse lipid accumulation was present at autopsy, and a profound deficiency of CPT II activity was evident in heart, liver, muscle, and kidney tissue. This disorder constitutes another recogniz able malformation syndrome with a metabolic basis, Deficiency of CPT I I should be included in the differential diagnosis of patients with cy stic renal dysplasia, dysmorphism, central nervous system malformation s, and early death, along with glutaric acidemia type II, Zellweger sy ndrome, and other disorders in which peroxisomal beta-oxidation is imp aired. The clinicopathologic similarities among these disorders raise the possibility that a common biochemical mechanism, namely the disrup tion of beta-oxidation of fatty acids, is responsible for the abnormal organogenesis.