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Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
Authors:Fernando?Scaglia  author-information"  >  author-information__contact u-icon-before"  >  mailto:fscaglia@bcm.tmc.edu"   title="  fscaglia@bcm.tmc.edu"   itemprop="  email"   data-track="  click"   data-track-action="  Email author"   data-track-label="  "  >Email author,Angela?E?Scheuerle,Jeffrey?A?Towbin,Dawna?L?Armstrong,Lawrence?Sweetman,Lee-Jun?C?Wong
Affiliation:(1) Department of Molecular and Human Genetics, Baylor College of Medicine, 77030 Houston, TX, USA;(2) Department of Pediatrics, Baylor College of Medicine, 77030 Houston, TX, USA;(3) Department of Pathology, Baylor College of Medicine, 77030 Houston, TX, USA;(4) Department of Genetics, Teratology and Ethics Consulting, Dallas, TX, USA;(5) Texas Birth Defects Research Center, Dallas, TX, USA;(6) Baylor Institute of Metabolic Disease, 75226 Dallas, TX, USA;(7) Institute for Molecular and Human Genetics, Georgetown University Medical Center, 20007 Washington DC, USA
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.
Keywords:
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