148 THREE FORMS OF CARNITINE PALMITOYL TRANSFERASE (CPT) II DEFICIENCY: (1) FATAL AT BIRTH OR (2) AT AGE 20 YEARS WITH CARDIAC FAILURE, OR (3) LIFE-COMPATIBLE WITH MODERATE MUSCLE SYMPTOMS

Abstract

Three unrelated patients had Vmax normal for CPT I but reduced for CPT II, and normal Km for both. Palmitoyl CoA synthase, carnitine acetyl transferase, 4 acyl CoA dehydrogenases were normal. The patients: (1) A girl died at 5 days of encephalo-cardiomyopathy. Lipid was high in heart, liver, muscle; in these and in fibroblasts. CPT II was < 6% or not detectable. Total Carnitine was low, acyl carnitine high (Hug el al.Pediatr Res 25:115A;1989). (2) A male without muscle symptoms died at 20 years of dilated cardiomyopathy, as did his half-brother (of a different father). In heart, lipid was not excessive, carnitine was 50% and CPT II was 19%. (3) A male at 20 years had symptoms as in muscle CPT deficiency (DiMauro et al.Science 182:929;1973). Liver and heart were normal clinically. CPT II was 6% in muscle and fibroblasts. - Deficient CPT II and normal CPT I in the same patient indicate thai the 2 enzymes differ. Whether different phenotypes in CPT deficiency reflect differences in tissue distribution and in extent of the defect must be studied in multiple tissues obtained at biopsy or autopsy.