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Lookup NU author(s): Dr Victoria Nesbitt,
Professor Kim Bartlett,
Professor Robert Taylor,
Professor Bobby McFarland
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Congenital lactic acidosis presents in the newborn period, usually in a symptomatic infant (hypotonia, weakness, respiratory failure), and has a poor prognosis. The underlying aetiology may be an inborn error of metabolism, including Lethal Infantile Mitochondrial Disease (LIMD). In LIMD, lactic acidosis arises because poorly functioning mitochondria do not allow oxidation of pyruvate, which in turn leads to an accumulation of lactate as a by-product of anaerobic metabolism. Lactic acidosis may be the first clue to an underlying mitochondrial disease. In this article we will review the physiology of lactate metabolism, highlight clinical features associated with congenital lactic acidosis, and explore management options in order to make a diagnosis of mitochondrial disease.
Author(s): Nesbitt V, Bartlett K, Taylor RW, McFarland R
Publication type: Article
Publication status: Published
Journal: Journal of Neonatal and Perinatal Medicine
Print publication date: 10/05/2011
ISSN (print): 1934-5798
ISSN (electronic): 1878-4429
Publisher: IOS Press
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