Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism

BMC Pediatr. 2002 Dec 30;2:12. doi: 10.1186/1471-2431-2-12. Epub 2002 Dec 30.


Background: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period.

Case presentation: We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance.

Conclusions: This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / urine
  • Carnitine / analogs & derivatives*
  • Carnitine / analysis
  • DNA, Mitochondrial / genetics
  • Female
  • Glutarates / urine
  • Humans
  • Infant, Newborn
  • Mitochondrial Myopathies / complications*
  • Mitochondrial Myopathies / diagnosis
  • Mitochondrial Myopathies / metabolism*
  • Mutation
  • Orotic Acid / urine
  • Reye Syndrome / complications*
  • Reye Syndrome / diagnosis
  • Reye Syndrome / metabolism*
  • Tachycardia, Ventricular / complications*
  • Tachycardia, Ventricular / metabolism*


  • Biomarkers
  • DNA, Mitochondrial
  • Glutarates
  • acylcarnitine
  • 3-methylglutaconic acid
  • Orotic Acid
  • Carnitine