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

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...

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Bibliografski detalji
Glavni autori: Scaglia, Fernando, Scheuerle, Angela E, Towbin, Jeffrey A, Armstrong, Dawna L, Sweetman, Lawrence, Wong, Lee-Jun C
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2002
Teme:
Case Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC140035/
https://ncbi.nlm.nih.gov/pubmed/12507404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-2-12
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