Abstract
Hyperammonemia is the hallmark of the disorders of the urea cycle but occurs episodically also in organic acidurias and disorders of fatty acid oxidation. Routine clinical chemistry is helpful in pointing the direction of the work-up of a patient. Patients with urea cycle defects are alkalotic or normal; those with organic acidurias or disorders of fatty acid oxidation are acidotic. The next step toward a definitive differential diagnosis is the quantitative assay of the concentrations of amino acids in plasma (glutamine, citrulline, arginine) and urine (argininosuccinic acid, orotic acid) or dry blood (argininosuccinic acid).
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Nyhan, W.L., Kölker, S., Hoffmann, G.F. (2017). Work-Up of the Patient with Hyperammonemia. In: Hoffmann, G., Zschocke, J., Nyhan, W. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-49410-3_17
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DOI: https://doi.org/10.1007/978-3-662-49410-3_17
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