Abstract
Hypoketotic hypoglycemia signifies a disorder of fatty acid oxidation. An absence of ketones in urine at the time of hypoglycemia is an important clue, but the presence of ketonuria may be misleading. Blood levels of free fatty acids and 3-hydroxybutyrate are much more reliable. A modern work-up may begin with assay of the acylcarnitines by MS/MS, and this may indicate the diagnosis and the appropriate enzymatic assay. Organic acid analysis should reveal the diagnosis in those with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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Nyhan, W.L., Kölker, S., Hoffmann, G.F. (2017). Approach to the Child Suspected of Having a Disorder of Fatty Acid Oxidation. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_16
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DOI: https://doi.org/10.1007/978-3-662-49410-3_16
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