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[9] Deficiency in N -acetylglutamic acid in humans is an autosomal recessive disorder that results in blockage of urea production which ultimately increases the concentration of ammonia in the blood (hyperammonemia)

Thus, current knowledge is largely hypothesis-generating and highlights the urgent need for well-designed clinical and translational studies

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2019;217:119292 Diamantopoulou Z, Castro-Giner F, Schwab FD, Foerster C, Saini M, Budinjas S, et al