PartialN-acetylglutamate synthetase deficiency: A new case with uncontrollable movement disorders
A. B. Burlina
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorC. Bachmann
Department of Clinical Chemistry, CHUV, University of Lausanne, Lausanne, CH-1011 Switzerland
Search for more papers by this authorB. Wermuth
Department of Clinical Chemistry, Inselspital, University of Berne, Berne, CH-3010 Switzerland
Search for more papers by this authorA. Bordugo
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorV. Ferrari
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorJ. P. Colombo
Department of Clinical Chemistry, Inselspital, University of Berne, Berne, CH-3010 Switzerland
Search for more papers by this authorF. Zacchello
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorA. B. Burlina
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorC. Bachmann
Department of Clinical Chemistry, CHUV, University of Lausanne, Lausanne, CH-1011 Switzerland
Search for more papers by this authorB. Wermuth
Department of Clinical Chemistry, Inselspital, University of Berne, Berne, CH-3010 Switzerland
Search for more papers by this authorA. Bordugo
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorV. Ferrari
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this authorJ. P. Colombo
Department of Clinical Chemistry, Inselspital, University of Berne, Berne, CH-3010 Switzerland
Search for more papers by this authorF. Zacchello
Department of Pediatrics, University of Padua, Padova, 35128 Italy
Search for more papers by this author
References
- 1Bachmann C, Kranhenbuhl S, Colombo JP, Schubiger G, Jaggi KH, Tonz O (1981) N-Acetylglutamate synthetase deficiency: a disorder of ammonia detoxication. N Engl J Med, 304: 543–543.
- 2Bachmann C, Brandis M, Weissenbarth-Riedel E, Burghard R, Colombo JP (1988) N-Acetylglutamate synthetase deficiency, a second patient. J Inher Metab Dis, 11: 191–193, .
- 3BAtshaw ML, Robinson MB, Heyes M (1990) Neurotransmitters, neurologic abnormalities and hyperammonemia.. In: 5th International Congress Inborn Errors of Metabolism, Asilomar, June 1990, W10.4.
- 4Colombo JP, Krahenbuhl S, Bachmann C, Aeberhard P (1982) N-Acetylglutamate synthetase enzyme assay in human liver. J Clin Chem Clin Biochem, 20: 325–329.
- 5Elpeleg ON, Colombo JP, Amir N, Bachmann C, Hurvitz H (1990) Late-onset form of partialN-acetylglutamate synthetase deficiency. Eur J Pediatr, 149: 634–636, .
- 6Ferrari V, Giordano G, Cracco AT, Dussini N, Chiandetti L, Zacchello F (1989) Determination of urinary orotate excretion by high-performance liquid chromatography. J Chromatogr, 497: 101–107.
- 7Schubiger G, Bachmann C, Barben P, Colombo JP, Tonz O, Scupbach D (1991) N-Acetylglutamate synthetase deficiency: diagnosis, management and follow-up of a rare disorder of ammonia detoxication. Eur J Pediatr, 150: 353–356, .
