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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.<\/jats:p>","DOI":"10.1007\/s10545-006-0256-5","type":"journal-article","created":{"date-parts":[[2006,6,9]],"date-time":"2006-06-09T03:09:10Z","timestamp":1149822550000},"page":"352-358","source":"Crossref","is-referenced-by-count":78,"title":["Inborn error of amino acid synthesis: Human glutamine synthetase deficiency"],"prefix":"10.1002","volume":"29","author":[{"given":"Johannes","family":"H\u00e4berle","sequence":"first","affiliation":[{"name":"Klinik und Poliklinik f\u00fcr Kinder\u2010 und Jugendmedizin Universit\u00e4tsklinikum M\u00fcnster  Albert\u2010Schweitzer\u2010Str. 33 M\u00fcnster 48129 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"G\u00f6rg","sequence":"additional","affiliation":[{"name":"Clinic for Gastroenterology, Hepatology and Infectiology Heinrich\u2010Heine University 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