Neonatal citrullinaemia with satisfactory mental development |
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| Authors: | P. Sanjurjo J. Rodríguez-Soriano A. Vallo A. Arranz V. Rubio |
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| Affiliation: | (1) Department of Paediatrics, Hospital Infantil de Cruces and Basque University School of Medicine, Bilbao, Spain;(2) Instituto de Investigaciones Citológicas de la Caja de Ahorros de Valencia, Valencia, Spain |
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| Abstract: | In an infant with neonatal citrullinaemia therapy was instituted on day 1 of life with a low-protein diet and oral supplements of arginine,  -keto-acids, essential amino acids and carnitine. The latter may have contributed to the excellent clinical outcome, as evidenced by normal growth and satisfactory psychomotor development at 3 years of age. |
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| Keywords: | Urea cycle metabolism disorders Citrullinaemia Hyperammonaemia Carnitine |
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