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Volume 354:1093-1094 March 9, 2006 Number 10
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Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

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 by Häberle, J.
To the Editor: Häberle et al. (Nov. 3 issue)1 state that "the concentration of glutamate . . . was not elevated in either of the two patients, but this lack of elevation might be due to the various other pathways of glutamate catabolism." We suggest that low-to-deficient glutamate concentrations in cerebrospinal fluid indicate a chronic depletion of neuronal glutamate stores, since astrocytic glutamine synthase is crucial for their replenishment. After the bioenergetic coupling of and metabolite trafficking between astrocytes and neurons occur,2 a complete deficiency of this enzyme should result in a severe depletion of neuronal glutamate stores in the long run . . . [Full Text of this Article]




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