METABOLIC STUDIES IN A PATIENT WITH SEVERE CARNITINE PALMITOYLTRANSFERASE TYPE-II DEFICIENCY

Here we report on a patient with severe (''non-classic'') carnitine pa lmitoyltransferase type II (CPT II) deficiency. Hypoglycemia prompted by an infectious episode and associated with non-ketotic dicarboxylic aciduria orientated diagnosis towards beta-oxidation deficiency disord ers. Blood carnitine levels revealed a secondary carnitine deficiency that was responsive to oral L-carnitine supplementation. Blood acylcar nitine profiles were abnormal and included acetyl (C2:0), butyryl/isob utyryl (C4:0), isovaleryl/2-methylbutyryl (C5:0), hexanoyl (C6:0), myr istoyl (C14:0), palmitoyl (C16:0), hexadecenoyl (C16:1), oleyl(C18:1) and stearoyl(C18:0) carnitine. In urine, excess excretion of dicarboxy lylcarnitines, mainly dodecanedioylcarnitine, was noticed. Upon carnit ine supplementation, C8 to C12 fatty acylcarnitines, with decanoylcarn itine as well as C10 to C14 dicarboxylylcarnitines being prominent, we re observed in urine. Biochemical measurements disclosed a severe redu ction of mitochondrial CPT II activity (7% of normal values). Correlat ions of metabolic findings in the patient and physiological roles of C PT II are briefly discussed. (C) 1998 Elsevier Science B.V. All rights reserved.