Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

@article{SanchoVaello2016UnderstandingNS,
  title={Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.},
  author={Enea Sancho-Vaello and Clara Marco-Mar{\'i}n and Nadine Gougeard and Leonor Fern{\'a}ndez-Murga and V{\'e}ronique R{\"u}fenacht and Merima Mustedanagic and Vicente Rubio and Johannes H{\"a}berle},
  journal={Human mutation},
  year={2016},
  volume={37 7},
  pages={679-94}
}
N-acetyl-L-glutamate synthase (NAGS) deficiency (NAGSD), the rarest urea cycle defect, is clinically indistinguishable from carbamoyl phosphate synthetase 1 deficiency, rendering the identification of NAGS gene mutations key for differentiation, which is crucial, as only NAGSD has substitutive therapy. Over the last 13 years, we have identified 43 patients from 33 families with NAGS mutations, of which 14 were novel. Overall, 36 NAGS mutations have been found so far in 56 patients from 42… CONTINUE READING
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