caa a22 4500 467933278 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060401xx s 000 0 eng 10.1007/s10545-006-0256-5 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0256-5 Inborn error of amino acid synthesis: Human glutamine synthetase deficiency [Elektronische Daten] [Johannes Häberle, Boris Görg, Annick Toutain, Frank Rutsch, Jean-François Benoist, Antoinette Gelot, Annie-Laure Suc, Hans Koch, Freimut Schliess, Dieter Häussinger] Summary: Glutamine synthetase (GS) is ubiquitously expressed in human tissues, being involved in ammonia detoxification and interorgan nitrogen flux. Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. Glutamine was largely absent in their serum, urine and cerebrospinal fluid. Each of the patients had a homozygous mutation in the glutamine synthetase gene and enzymatic investigations confirmed that these mutations lead to a severely reduced glutamine synthetase activity. From the observation in the first patients with congenital glutamine synthetase deficiency, brain malformation can be expected as one of the leading signs. In addition, other organ systems are probably involved as observed in one of the index patients who suffered from severe enteropathy and necrolytic erythema of the skin. Deficiency of GS has to be added to the list of inherited metabolic disorders as a rare example of a defect in the biosynthesis of an amino acid. SSIEM and Springer, 2006 Häberle Johannes Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany aut Görg Boris Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Toutain Annick Service de Génétique, Centre Hospitalier Universitaire Bretonneau, 2 boulevard Tonnellé, 37044, Tours Cedex 9, France aut Rutsch Frank Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany aut Benoist Jean-François Hôpital Robert Debré, Service de Biochimie-Hormonologie, 48, Bd Sérurier, 75019, Paris, France aut Gelot Antoinette Unité de Neuropathologie, Hôpital Armand Trousseau, 26 avenue du Dr Arnold Netter, 75571, Paris cedex 12, France aut Suc Annie-Laure Département de Pédiatrie, Centre Hospitalier Universitaire Clocheville, 49 boulevard Béranger, 37044, Tours cedex 9, France aut Koch Hans Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany aut Schliess Freimut Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Häussinger Dieter Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 352-358 0141-8955 29:2-3<352 2006 29 10545 https://doi.org/10.1007/s10545-006-0256-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0256-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Häberle Johannes Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany aut NATIONALLICENCE 700 1- Görg Boris Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Toutain Annick Service de Génétique, Centre Hospitalier Universitaire Bretonneau, 2 boulevard Tonnellé, 37044, Tours Cedex 9, France aut NATIONALLICENCE 700 1- Rutsch Frank Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany aut NATIONALLICENCE 700 1- Benoist Jean-François Hôpital Robert Debré, Service de Biochimie-Hormonologie, 48, Bd Sérurier, 75019, Paris, France aut NATIONALLICENCE 700 1- Gelot Antoinette Unité de Neuropathologie, Hôpital Armand Trousseau, 26 avenue du Dr Arnold Netter, 75571, Paris cedex 12, France aut NATIONALLICENCE 700 1- Suc Annie-Laure Département de Pédiatrie, Centre Hospitalier Universitaire Clocheville, 49 boulevard Béranger, 37044, Tours cedex 9, France aut NATIONALLICENCE 700 1- Koch Hans Klinik und Poliklinik für Kinder- und Jugendmedizin, Universitätsklinikum Münster, Albert-Schweitzer-Str. 33, 48129, Münster, Germany aut NATIONALLICENCE 700 1- Schliess Freimut Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 700 1- Häussinger Dieter Clinic for Gastroenterology, Hepatology and Infectiology, Heinrich-Heine University Düsseldorf, Moorenstrasse 5, 40225, Düsseldorf, Germany aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/2-3(2006-04-01), 352-358 0141-8955 29:2-3<352 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer