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

Fernando Scaglia, Angela E. Scheuerle, Jeffrey A. Towbin, Dawna L. Armstrong, Lawrence Sweetman, Lee Jun C Wong

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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 dayold 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.

Original languageEnglish (US)
Article number12
JournalBMC Pediatrics
Volume2
DOIs
StatePublished - Dec 30 2002

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Reye Syndrome
Ventricular Tachycardia
Energy Metabolism
Hyperammonemia
Fatty Acids
Mitochondrial Diseases
Ventricular Premature Complexes
Hypertrophic Cardiomyopathy
Cardiomyopathies
Hypoglycemia
Fatigue
Urine
Newborn Infant
Databases
Exercise
Phenotype
Biopsy
Muscles
Acids
Mitochondrial cytopathy

Keywords

  • 3-Methylglutaconic aciduria
  • Mitochondrial dysfunction
  • Reye-like syndrome
  • Ventricular tachycardia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. / Scaglia, Fernando; Scheuerle, Angela E.; Towbin, Jeffrey A.; Armstrong, Dawna L.; Sweetman, Lawrence; Wong, Lee Jun C.

In: BMC Pediatrics, Vol. 2, 12, 30.12.2002.

Research output: Contribution to journalArticle

Scaglia, Fernando ; Scheuerle, Angela E. ; Towbin, Jeffrey A. ; Armstrong, Dawna L. ; Sweetman, Lawrence ; Wong, Lee Jun C. / Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. In: BMC Pediatrics. 2002 ; Vol. 2.
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AU - Wong, Lee Jun C

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AB - 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 dayold 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.

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