Asparagine Synthetase Deficiency

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1		Catherine Yang	+ 516 word(s)	516	2020-12-15 07:16:15

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Yang, C. Asparagine Synthetase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4798 (accessed on 28 September 2026).

Yang C. Asparagine Synthetase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4798. Accessed September 28, 2026.

Yang, Catherine. "Asparagine Synthetase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4798 (accessed September 28, 2026).

Yang, C. (2020, December 24). Asparagine Synthetase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4798

Yang, Catherine. "Asparagine Synthetase Deficiency." Encyclopedia. Web. 24 December, 2020.

Asparagine Synthetase Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/asparagine-synthetase-deficiency

Asparagine synthetase deficiency is a condition that causes neurological problems in affected individuals starting soon after birth. Most people with this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue. They also have severe developmental delay that affects both mental and motor skills (psychomotor delay). Affected individuals cannot sit, crawl, or walk and are unable to communicate verbally or nonverbally. The few affected children who achieve developmental milestones often lose these skills over time (developmental regression).

genetic conditions

References

Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Asparagine SynthetaseDeficiency: New Inborn Errors of Metabolism. JIMD Rep. 2015;22:11-6. doi:10.1007/8904_2014_405.
Lomelino CL, Andring JT, McKenna R, Kilberg MS. Asparagine synthetase:Function, structure, and role in disease. J Biol Chem. 2017 Dec8;292(49):19952-19958. doi: 10.1074/jbc.R117.819060.
Palmer EE, Hayner J, Sachdev R, Cardamone M, Kandula T, Morris P, Dias KR, TaoJ, Miller D, Zhu Y, Macintosh R, Dinger ME, Cowley MJ, Buckley MF, Roscioli T,Bye A, Kilberg MS, Kirk EP. Asparagine Synthetase Deficiency causes reducedproliferation of cells under conditions of limited asparagine. Mol Genet Metab.2015 Nov;116(3):178-86. doi: 10.1016/j.ymgme.2015.08.007.
Ruzzo EK, Capo-Chichi JM, Ben-Zeev B, Chitayat D, Mao H, Pappas AL, Hitomi Y, Lu YF, Yao X, Hamdan FF, Pelak K, Reznik-Wolf H, Bar-Joseph I, Oz-Levi D, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Anikster Y, Ben-Asher E, Olender T, Colleaux L, Décarie JC, Blaser S, Banwell B, Joshi RB, He XP, Patry L, Silver RJ,Dobrzeniecka S, Islam MS, Hasnat A, Samuels ME, Aryal DK, Rodriguiz RM, Jiang YH,Wetsel WC, McNamara JO, Rouleau GA, Silver DL, Lancet D, Pras E, Mitchell GA,Michaud JL, Goldstein DB. Deficiency of asparagine synthetase causes congenitalmicrocephaly and a progressive form of encephalopathy. Neuron. 2013 Oct16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013.
Sacharow SJ, Dudenhausen EE, Lomelino CL, Rodan L, El Achkar CM, Olson HE,Genetti CA, Agrawal PB, McKenna R, Kilberg MS. Characterization of a novelvariant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 Mar;123(3):317-325. doi: 10.1016/j.ymgme.2017.12.433.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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