A 6-year-old boy with hyperammonaemia
| Autor: | Jan A. Rauwerda, Marjo S. van der Knaap, Wim G. van Gemert, Daniël L. J. Broere, Radu A. Manoliu, C. M. Frank Kneepkens, Diana M. Neele |
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| Přispěvatelé: | Pediatric surgery, Surgery, Amsterdam Neuroscience - Cellular & Molecular Mechanisms |
| Jazyk: | angličtina |
| Rok vydání: | 2000 |
| Předmět: |
Male
medicine.medical_specialty Urinary system Amino-Acid N-Acetyltransferase Lethargy Lactulose Acetyltransferases Internal medicine medicine Humans Hyperammonemia N-Acetylglutamate synthase deficiency Child business.industry Metabolic disorder Brain medicine.disease Magnetic Resonance Imaging Endocrinology Hepatic Encephalopathy Pediatrics Perinatology and Child Health Steatosis business Ductus venosus Metabolism Inborn Errors medicine.drug |
| Zdroj: | European Journal of Pediatrics, 159(12), 905-907. Springer Verlag Broere, D, Van Gemert, W G, Kneepkens, C M F, Neele, D M, Manoliu, R A, Rauwerda, J A & Van der Knaap, M S 2000, ' A 6-year-old boy with hyperammonaemia : Partial N-acetylglutamate synthase deficiency or portosystemic encephalopathy? ', European Journal of Pediatrics, vol. 159, no. 12, pp. 905-907 . https://doi.org/10.1007/PL00008367 |
| ISSN: | 0340-6199 |
| DOI: | 10.1007/PL00008367 |
| Popis: | We describe a 6-year-old boy admitted with lethargy and somnolence. Laboratory tests showed hyperammonaemia (arterial level 186 μmol/1) 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. |
| Databáze: | OpenAIRE |
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