Congenital glutamine deficiency with glutamine synthetase mutations.

The New England journal of medicine (2005-11-04)
Johannes Häberle, Boris Görg, Frank Rutsch, Eva Schmidt, Annick Toutain, Jean-François Benoist, Antoinette Gelot, Annie-Laure Suc, Wolfgang Höhne, Freimut Schliess, Dieter Häussinger, Hans G Koch
ABSTRAKT

Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death. Glutamine was largely absent from their serum, urine, and cerebrospinal fluid. Each infant had a homozygous mutation in the glutamine synthetase gene (R324C and R341C). Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity.

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Sigma-Aldrich
L-Glutamine Synthetase from Escherichia coli, lyophilized powder, 400-2,000 units/mg protein
Sigma-Aldrich
Anti-GLUL antibody produced in rabbit, Ab1, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution
Sigma-Aldrich
Anti-GLUL antibody produced in rabbit, Ab2, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution

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