Key Facts
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Inborn errors characterized by lactic acidemia fall into two categories: abnormalities in gluco-neogenesis and defects of oxidation. Distinction is important because management and prognosis are different.
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As a first step exclude factitious and secondary elevations of levels of lactic acid in order to focus on specifics of work-up.
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Ratios of lactate to pyruvate and 3-hydroxybu-tyrate to acetoacetate are useful in elucidating the area of metabolic defect.
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Postprandial rise or fall in lactate gives important information.
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A monitored fast may be required to distinguish oxidative defects from those of gluco-neogenesis. Molecular methods have decreased the necessity for this.
Keywords
- Pyruvic Acid
- Mitochondrial Disease
- Glycogen Storage Disease
- Glycogen Storage Disease Type
- Organic Acid Analysis
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Key References
Munnich A (2006) Defects of the respiratory chain. In: Fernandes J, Saudubray JM, van den Berghe G, Walter JH (eds) Inborn metabolic diseases, 4th edn. Springer, Berlin, pp 197–209
Nyhan WL, Barshop BA, Ozand PA (2005) Atlas of metabolic disease, 2nd edn. Hodder Arnold, London, pp 303–369
Smeitink J, van den Heuvel L, DiMauro S (2001) The genetics and pathology of oxidative phosphorylation. Nat Rev Genet 2:342–352
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Nyhan, W.L. (2010). Metabolic Emergencies. In: Hoffmann, G.F., Zschocke, J., Nyhan, W.L. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_7
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