Abstract
The classical inborn errors of metabolism are defects in enzymes of the metabolism of amino acids, carbohydrates, and fatty acids or in mitochondrial energy metabolism (Fig. 1.1). These disorders are often dynamic; they fluctuate with changes in the metabolic state of the patient and frequently allow successful therapeutic intervention. Most of them are readily diagnosed through basic metabolic investigations, which include blood gases, glucose, lactate, ammonia, plasma amino acids, urinary organic acids, and an acylcarnitine profile.
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Zschocke, J. (2017). Disorders of Intermediary Metabolism. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_1
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DOI: https://doi.org/10.1007/978-3-662-49410-3_1
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