N-acetylglutamate Synthase Deficiency

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Xu, R. N-acetylglutamate Synthase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4459 (accessed on 29 September 2026).

Xu R. N-acetylglutamate Synthase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4459. Accessed September 29, 2026.

Xu, Rita. "N-acetylglutamate Synthase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4459 (accessed September 29, 2026).

Xu, R. (2020, December 23). N-acetylglutamate Synthase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4459

Xu, Rita. "N-acetylglutamate Synthase Deficiency." Encyclopedia. Web. 23 December, 2020.

N-acetylglutamate Synthase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/n-acetylglutamate-synthase-deficiency

N-acetylglutamate synthase deficiency is a disorder that causes abnormally high levels of ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The brain is especially sensitive to the effects of excess ammonia.

genetic conditions

References

Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Nullmutations in the N-acetylglutamate synthase gene associated with acute neonataldisease and hyperammonemia. Hum Genet. 2003 Apr;112(4):364-8.
Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M.Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.Hum Mutat. 2005 Mar;25(3):293-8.
Cavicchi C, Chilleri C, Fioravanti A, Ferri L, Ripandelli F, Costa C,Calabresi P, Prontera P, Pochiero F, Pasquini E, Funghini S, la Marca G, DonatiMA, Morrone A. Late-Onset N-Acetylglutamate Synthase Deficiency: Report of aParadigmatic Adult Case Presenting with Headaches and Review of the Literature.Int J Mol Sci. 2018 Jan 24;19(2). pii: E345. doi: 10.3390/ijms19020345. Review.
Elpeleg O, Shaag A, Ben-Shalom E, Schmid T, Bachmann C. N-acetylglutamatesynthase deficiency and the treatment of hyperammonemic encephalopathy. AnnNeurol. 2002 Dec;52(6):845-9.
Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B,Harms E, Koch HG. Mutation analysis in patients with N-acetylglutamate synthasedeficiency. Hum Mutat. 2003 Jun;21(6):593-7.
Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V,Mustedanagic M, Rubio V, Häberle J. Understanding N-Acetyl-L-Glutamate SynthaseDeficiency: Mutational Spectrum, Impact of Clinical Mutations on EnzymeFunctionality, and Structural Considerations. Hum Mutat. 2016 Jul;37(7):679-94.doi: 10.1002/humu.22995.
Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, WermuthB, Koch HG. Identification of novel mutations of the human N-acetylglutamatesynthase gene and their functional investigation by expression studies. BiochimBiophys Acta. 2005 Apr 15;1740(1):54-9.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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