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Asparagine Synthetase Deficiency.
Alfadhel M, El-Hattab AW. Alfadhel M, et al. 2018 Sep 20 [updated 2025 Nov 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2018 Sep 20 [updated 2025 Nov 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 30234940 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid asparagine concentr …
CLINICAL CHARACTERISTICS: Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcepha …
Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines.
Staklinski SJ, Chang MC, Ahrens-Nicklas RC, Kaur S, Stefanatos AK, Dudenhausen EE, Merritt ME, Kilberg MS. Staklinski SJ, et al. JIMD Rep. 2023 Jan 5;64(2):167-179. doi: 10.1002/jmd2.12356. eCollection 2023 Mar. JIMD Rep. 2023. PMID: 36873094 Free PMC article.
Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutations in the ASNS gene result in ASNS Deficiency (ASNSD). Children with ASNSD exhibit congenital microcephaly, epileptic-like se …
Asparagine synthetase (ASNS) catalyzes the synthesis of asparagine (Asn) from aspartate and glutamine. Biallelic mutati …
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Abdel-Salam GMH, Abdel-Hamid MS. Abdel-Salam GMH, et al. Neuropediatrics. 2021 Jun;52(3):201-207. doi: 10.1055/s-0040-1718917. Epub 2020 Dec 3. Neuropediatrics. 2021. PMID: 33271615
Our patient is the second to show asparagine synthetase deficiency and intracranial hemorrhage, thus confirming the involvement of ASNS gene. As such, it is important to consider asparagine synthetase deficiency syndrome in patients with …
Our patient is the second to show asparagine synthetase deficiency and intracranial hemorrhage, thus confirming the inv …
Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
Chang MC, Staklinski SJ, Malut VR, Pierre GL, Kilberg MS, Merritt ME. Chang MC, et al. Nutrients. 2023 Apr 18;15(8):1938. doi: 10.3390/nu15081938. Nutrients. 2023. PMID: 37111157 Free PMC article.
The natural amino acid asparagine (Asn) is required by cells to sustain function and proliferation. Healthy cells can synthesize Asn through asparagine synthetase (ASNS) activity, whereas specific cancer and genetically diseased cells are forced to obtain …
The natural amino acid asparagine (Asn) is required by cells to sustain function and proliferation. Healthy cells can synthesize Asn …
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ, Scheben A, Siepel A, Kilberg MS. Staklinski SJ, et al. bioRxiv [Preprint]. 2023 Nov 2:2023.10.30.564808. doi: 10.1101/2023.10.30.564808. bioRxiv. 2023. PMID: 37961642 Free PMC article. Preprint.
AlphaMissense is a recently developed method that is designed to classify missense variants into pathogenic, benign, or ambiguous categories across the entire human proteome. Asparagine Synthetase Deficiency (ASNSD) is a developmental disorder associated with …
AlphaMissense is a recently developed method that is designed to classify missense variants into pathogenic, benign, or ambiguous categories …
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta N, Tewari VV, Kumar M, Langeh N, Gupta A, Mishra P, Kaur P, Ramprasad V, Murugan S, Kumar R, Jana M, Kabra M. Gupta N, et al. Metab Brain Dis. 2017 Dec;32(6):1889-1900. doi: 10.1007/s11011-017-0073-6. Epub 2017 Aug 3. Metab Brain Dis. 2017. PMID: 28776279 Review.
Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding asparagine synthetase. It manifests with a severe neurological phenotype manifesting as severe developmental delay, congenital m …
Asparagine synthetase deficiency is a rare inborn error of metabolism caused by a defect in ASNS, a gene encoding as …
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Alfadhel M, et al. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. JIMD Rep. 2015. PMID: 25663424 Free PMC article.
BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. ...RESULTS: We …
BACKGROUND: Asparagine synthetase deficiency (ASD) is a newly identified neurometabolic disorder characterized by sever …
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
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. Ruzzo EK, et al. Neuron. 2013 Oct 16;80(2):429-41. doi: 10.1016/j.neuron.2013.08.013. Neuron. 2013. PMID: 24139043 Free PMC article.
Hypomorphic Asns mutant mice have structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and show deficits in learning and memory mimicking aspects of the patient phenotype. ASNS encodes asparagine synthetase, which catalyzes t …
Hypomorphic Asns mutant mice have structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and show def …
Molecular diagnosis of asparagine synthetase (ASNS) deficiency in two Indian families and literature review of 29 ASNS deficient cases.
Radha Rama Devi A, Naushad SM. Radha Rama Devi A, et al. Gene. 2019 Jul 1;704:97-102. doi: 10.1016/j.gene.2019.04.024. Epub 2019 Apr 9. Gene. 2019. PMID: 30978478 Review.
In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families. Family 1 had two early neonatal deaths due to a novel mutation in the ASNS gene c.788C > T (p.S263F) and both the children presented wi …
In the current study, we report three cases of Asparagine Synthetase (ASNS) Deficiency from two consanguineous families …
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