CENTRAL-NERVOUS-SYSTEM DISORDERS AND POSSIBLE BRAIN-TYPE CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY

We describe two male infants with central nervous system disorders, i. e. infantile spasms in one and athetotic quadriplegia in the other, an d with recurrent attacks of high plasma creatine kinase levels induced by viral infections. Although carnitine palmitoyltransferase I (CPT I ) activity in biopsied muscle was normal in both cases, that of carnit ine palmitoyltransferase II (CPT II) was decreased to 37% and 25% of t he control value, respectively. Meanwhile, to determine whether or not and how CPT exists in the central nervous system (CNS), we studied an imal brain tissues. CPT activity was demonstrated in almost all region s, especially in the brainstem, cerebellum and spinal cord. Although C PT deficiency can be classified into hepatic (CPT I) and muscular (CPT II) presentations, these data suggest that another symptomatology of CPT II deficiency with CNS involvement (brain type?) might exist.