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Yang, C. Adenylosuccinate Lyase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4653 (accessed on 28 September 2026).
Yang C. Adenylosuccinate Lyase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4653. Accessed September 28, 2026.
Yang, Catherine. "Adenylosuccinate Lyase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4653 (accessed September 28, 2026).
Yang, C. (2020, December 24). Adenylosuccinate Lyase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4653
Yang, Catherine. "Adenylosuccinate Lyase Deficiency." Encyclopedia. Web. 24 December, 2020.
Adenylosuccinate Lyase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/adenylosuccinate-lyase-deficiency

Adenylosuccinate lyase deficiency is a neurological disorder that causes brain dysfunction (encephalopathy) leading to delayed development of mental and movement abilities (psychomotor delay), autistic behaviors that affect communication and social interaction, and seizures. A characteristic feature that can help with diagnosis of this condition is the presence of chemicals called succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids.

genetic conditions

References

  1. Ariyananda Lde Z, Lee P, Antonopoulos C, Colman RF. Biochemical andbiophysical analysis of five disease-associated human adenylosuccinate lyasemutants. Biochemistry. 2009 Jun 16;48(23):5291-302. doi: 10.1021/bi802321m.
  2. Baresova V, Skopova V, Sikora J, Patterson D, Sovova J, Zikanova M, Kmoch S.Mutations of ATIC and ADSL affect purinosome assembly in cultured skinfibroblasts from patients with AICA-ribosiduria and ADSL deficiency. Hum MolGenet. 2012 Apr 1;21(7):1534-43. doi: 10.1093/hmg/ddr591.
  3. Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Adenylosuccinate lyasedeficiency. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi:10.1007/s10545-014-9755-y.
  4. Ray SP, Deaton MK, Capodagli GC, Calkins LA, Sawle L, Ghosh K, Patterson D,Pegan SD. Structural and biochemical characterization of human adenylosuccinatelyase (ADSL) and the R303C ADSL deficiency-associated mutation. Biochemistry.2012 Aug 21;51(33):6701-13. doi: 10.1021/bi300796y.
  5. Zikanova M, Skopova V, Hnizda A, Krijt J, Kmoch S. Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypicheterogeneity of adenylosuccinate lyase deficiency. Hum Mutat. 2010Apr;31(4):445-55. doi: 10.1002/humu.21212.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 745
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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