Article
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.
BMC pediatrics - 30 Dec 2002
Scaglia Fernando, Scheuerle Angela E, Towbin Jeffrey A, Armstrong Dawna L, Sweetman Lawrence, Wong Lee-Jun C
Abstract excerpt
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...
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