A patient with a severe phenotype of carnitine-acylcarnitine translocase de®ciency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in b-oxidation was suspected because of neonatal death of six siblings. Dietary treatment during neonatal adaptation and the subsequent six months of life and a trial of carnitine supplementation are reported. The rapidity with which long chain fatty acid metabolites can accumulate and induce secondary carnitine de®ciency within a few hours after birth

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... in an infant with CATR is noteworthy. Conclusion High rates of glucose suppressed neonatal lipolysis in this infant, but did not seem sucient to avoid secondary carnitine de®ciency as in severe forms of CATR. Therefore simultaneous use of insulin and glucose may be necessary to control neonatal lipolysis. Carnitine supplementation and the possible adverse eects of MCT systematically administrated, should be further assessed in patients with CATR. Key words Long chain fatty acids á Medium chain fatty acids á Diet á Carnitine á Beta-oxidation Abbreviations CATR carnitine-acylcarnitine translocase de®ciency á LCT long chain triglycerides á MCT medium chain triglycerides á LCFA long chain fatty acid á NEFA non esteri®ed fatty acids á BW body weight á MRI magnetic resonance imaging á VEP visual evoked potential á ERG electroretinogramm á GGT gamma glutamyl transferase Eur J Pediatr (2000) 159: 82±85 Ó Springer-Verlag 2000