caa a22 4500 475784944 CHVBK 20180406123655.0 cr unu---uuuuu 170329e20001101xx s 000 0 eng 10.1007/PL00008367 doi (NATIONALLICENCE)springer-10.1007/PL00008367 A 6-year-old boy with hyperammonaemia: partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? [Elektronische Daten] [Daniel Broere, Wim G. van Gemert, C. M. Frank Kneepkens, Diana M. Neele, Radu A. Manoliu, Jan A. Rauwerda, Marjo S. van der Knaap] We describe a 6-year-old boy admitted with lethargy and somnolence. Laboratory tests showed hyperammonaemia (arterial level 186 μmol/l) and slightly elevated prothrombin time. The patient was treated with sodium benzoate, lactulose and a protein-restricted diet. This resulted in an insufficient decrease in blood ammonia levels. Metabolic investigations were unrevealing apart from a slightly elevated urinary glutamine concentration. Liver tissue showed steatosis and mildly decreased activity of N-acetylglutamate synthase suggesting partial deficiency. Treatment with N-carbamyl glutamate did not affect serum ammonia levels. Colour Doppler sonography and MR angiography demonstrated a patent ductus venosus. After surgical ligation of the ductus venosus, serum ammonia levels returned to normal and mental and motor performance improved markedly. Conclusion In late onset hyperammonaemia, partial N-acetylglutamate synthase deficiency and portocaval shunt should be ruled out. Springer-Verlag Berlin Heidelberg, 2000 Key words Atretic encephalocele nationallicence Hyperammonaemia nationallicence Partial N-acetylglutamate synthase deficiency nationallicence Patent ductus venosus (Arantii) nationallicence Portosystemic encephalopathy nationallicence AbbreviationsCPS carbamoyl phosphate synthase nationallicence MRA magnetic resonance angiography nationallicence NAGS N-acetylglutamate synthase nationallicence PDV patent ductus venosus nationallicence PSE portosystemic encephalopathy nationallicence PSVS portosystemic venous shunt nationallicence Broere Daniel Department of Paediatric Neurology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut van Gemert Wim G. Department of Paediatric Surgery, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut Kneepkens C. M. Frank Department of Paediatric Gastroenterology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut Neele Diana M. Department of Clinical Chemistry (Metabolic Unit), Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut Manoliu Radu A. Department of Radiology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut Rauwerda Jan A. Department of Vascular Surgery, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut van der Knaap Marjo S. Department of Paediatric Neurology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut https://doi.org/10.1007/PL00008367 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/PL00008367 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Broere Daniel Department of Paediatric Neurology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- van Gemert Wim G. Department of Paediatric Surgery, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- Kneepkens C. M. Frank Department of Paediatric Gastroenterology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- Neele Diana M. Department of Clinical Chemistry (Metabolic Unit), Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- Manoliu Radu A. Department of Radiology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- Rauwerda Jan A. Department of Vascular Surgery, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut NATIONALLICENCE 700 1- van der Knaap Marjo S. Department of Paediatric Neurology, Academic Hospital, Free University of Amsterdam, Amsterdam, The Netherlands, NL aut Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer