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European Journal of Pediatrics

, Volume 159, Issue 1–2, pp 82–85 | Cite as

Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

  • J. -M. Nuoffer
  • P. de Lonlay
  • C. Costa
  • C. R. Roe
  • N. Chamoles
  • M. Brivet
  • J. M. Saudubray
ORIGINAL PAPER

Abstract

A patient with a severe phenotype of carnitine-acylcarnitine translocase deficiency (CATR)(McKusick 212138) is reported. Prior to birth, a defect in β-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 deficiency within a few hours after birth in an infant with CATR is noteworthy.

Conclusion High rates of glucose suppressed neonatal lipolysis in this infant, but did not seem sufficient to avoid secondary carnitine deficiency 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 effects of MCT systematically administrated, should be further assessed in patients with CATR.

Key words Long chain fatty acids Medium chain fatty acids Diet Carnitine Beta-oxidation 

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Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • J. -M. Nuoffer
    • 1
  • P. de Lonlay
    • 1
  • C. Costa
    • 2
  • C. R. Roe
    • 3
  • N. Chamoles
    • 4
  • M. Brivet
    • 2
  • J. M. Saudubray
    • 1
  1. 1.Departments of Metabolic Disease and Pediatrics, Hôpital Necker – Enfants, Malades, Paris, FranceFR
  2. 2.Laboratoire de Biochimie, Hôpital Bicêtre, Le Kremlin Bicêtre, FranceFR
  3. 3.Institute of Metabolic Disease, Baylor University Medical Centre, Dallas, Texas, USAUS
  4. 4.Enfermedades Neurometabolicas, Buenos Aires, ArgentinaAR

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