A PATIENT WITH LETHAL CARDIOMYOPATHY AND A CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY

In the last few years, increasing attention has been paid to the diagn osis of defects in mitochondrial fatty acid beta-oxidation in man (Sta nley 1987). Clinical diagnosis of these disorders is difficult, becaus e affected patients are often free of symptoms between metabolic crise s (Hale and Bennett 1992). A total of 13 inherited beta-oxidation defe cts have been described (Coates and Tanaka 1992). Among those 13 disor ders there are four that affect the transport into mitochondria of lon g-chain fatty acids that are activated to their CoA esters. Defects ha ve been described for the plasma-membrane carnitine transporter and ca rnitine palmitoyltransferase types 1 and 2 (CPT I and II). Recently th ree patients have been described with a carnitine- acylcarnitine trans locase deficiency, a defect in the transfer of fatty acylcarnitines ac ross the inner mitochondrial membrane in exchange for free carnitine ( Pande et al 1993; Stanley et al 1992; Brivet et al 1994). In this shor t communication we describe what is to our knowledge the fourth case o f a carnitine-acylcarnitine translocase deficiency.