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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.

Carbamylphosphate synthase is the first enzymatic reaction of the urea cycle. Its activator, N-acetylglutamate, is synthesized from acetyl-CoA and glutamate in a reaction catalyzed by N-acetylglutamate synthase (NAGS). We have identified the putative human NAGS gene and report the first mutation in this gene in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. Mutation analysis has a higher diagnostic specificity than the enzymatic assay in NAGS deficiency. A therapeutic trial with carbamylglutamate is recommended whenever hyperammonemia without an organic aciduria, increased orotate excretion, or diagnostic amino acidemia/uria is detected.[1]

References

  1. N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. Elpeleg, O., Shaag, A., Ben-Shalom, E., Schmid, T., Bachmann, C. Ann. Neurol. (2002) [Pubmed]
 
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