Lethal neonatal presentation of carnitine palmitoyltransferase I deficiency

J Inherit Metab Dis. 2001 Oct;24(5):601-2. doi: 10.1023/a:1012476029536.

Abstract

A neonate subsequently diagnosed with carnitine palmitoyltransferase I deficiency died at 34 h of untreatable bradycardia. There was fatty infiltration of the liver and increased free carnitine and reduced acylcarnitines in the blood.

Publication types

  • Case Reports

MeSH terms

  • Acetylcarnitine / blood
  • Bradycardia / etiology
  • Carnitine O-Palmitoyltransferase / deficiency*
  • Fatal Outcome
  • Heart Arrest / etiology
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / enzymology*
  • Lipid Metabolism, Inborn Errors / pathology
  • Liver / pathology
  • Male

Substances

  • Acetylcarnitine
  • Carnitine O-Palmitoyltransferase