Abstract
The patients studied are three sisters affected with hyperargininemia. The clinical and biochemical picture has been reported in full1–3. Like all patients affected with urea cycle diseases, the first clinical symptoms seen in a patient with hyperargininemia are irritability, coma and epilepsy. All the patients described either by us or in the literature are still alive. The age of our patients is 10, 13 and 17 years. The evolution of the hyperargininemic patient is characterized by neurological degradation, like spasticity.
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Marescau, B., Lowenthal, A., Terheggen, H.G., Esmans, E., Alderweireldt, F. (1982). Guanidino Compounds in Hyperargininemia. In: Lowenthal, A., Mori, A., Marescau, B. (eds) Urea Cycle Diseases. Advances in Experimental Medicine and Biology, vol 153. Springer, Boston, MA. https://doi.org/10.1007/978-1-4757-6903-6_52
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DOI: https://doi.org/10.1007/978-1-4757-6903-6_52
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