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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
Chemical Compound Review

AG-F-57836     (2S)-2-[[9-[(2S,3R,4S,5R)- 3,4-dihydroxy-5...

Synonyms: KST-1A5849, AC1L4WCL, CTK4I8790, AR-1A3142, AC1Q5T2A, ...
 
 
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Disease relevance of Succinyladenosine

  • ADSL deficiency is an inherited metabolic disease characterized by various degrees of psychomotor retardation and accumulation of dephosphorylated enzyme substrates 5-amino-4-imidazole-N-succinocarboxamide riboside (SAICAr) and succinyladenosine (SAdo) in body fluids [1].
  • In a 15-month-old girl with profound hypotonia, we established the diagnosis of ASL deficiency by demonstrating succinyladenosine and SAICA riboside in urine and decreased residual activity of ASL in skin fibroblasts [2].
 

Psychiatry related information on Succinyladenosine

 

High impact information on Succinyladenosine

  • Succinyladenosine and succinylaminoimidazole carboxamide riboside were found in body fluids from 3 children, including a brother and sister, with severe psychomotor delay and autism [4].
  • Both dephosphorylated enzyme substrates, succinylaminoimidazole-carboxamide riboside (SAICAr) and succinyladenosine (S-Ado), accumulate in the cerebrospinal fluid (CSF) of affected individuals with S-Ado/SAICAr concentration ratios proportional to the phenotype severity [5].
  • The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado) [6].
  • Such studies require availability of both ADSL substrates, 5-amino-4-imidazole-N-succinocarboxamide ribotide (SAICAR) and succinyladenosine 5'-monophosphate (SAMP) and their dephosphorylated products in sufficient amounts and purity [1].
  • Concentrations of SAICAr and SAdo were markedly elevated in urine, plasma and CSF and the SAdo/SAICAr ratio was low, consistent with the severe phenotype [7].

References

  1. Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency. Zikánová, M., Krijt, J., Hartmannová, H., Kmoch, S. J. Inherit. Metab. Dis. (2005) [Pubmed]
  2. First U.S. case of adenylosuccinate lyase deficiency with severe hypotonia. Valik, D., Miner, P.T., Jones, J.D. Pediatric neurology. (1997) [Pubmed]
  3. Residual adenylosuccinase activities in fibroblasts of adenylosuccinase-deficient children: parallel deficiency with adenylosuccinate and succinyl-AICAR in profoundly retarded patients and non-parallel deficiency in a mildly retarded girl. Van den Bergh, F., Vincent, M.F., Jaeken, J., Van den Berghe, G. J. Inherit. Metab. Dis. (1993) [Pubmed]
  4. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Jaeken, J., Van den Berghe, G. Lancet (1984) [Pubmed]
  5. Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients. Kmoch, S., Hartmannová, H., Stibůrková, B., Krijt, J., Zikánová, M., Sebesta, I. Hum. Mol. Genet. (2000) [Pubmed]
  6. Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Marie, S., Cuppens, H., Heuterspreute, M., Jaspers, M., Tola, E.Z., Gu, X.X., Legius, E., Vincent, M.F., Jaeken, J., Cassiman, J.J., Van den Berghe, G. Hum. Mutat. (1999) [Pubmed]
  7. Adenylosuccinate lyase deficiency--first British case. Marinaki, A.M., Champion, M., Kurian, M.A., Simmonds, H.A., Marie, S., Vincent, M.F., van den Berghe, G., Duley, J.A., Fairbanks, L.D. Nucleosides Nucleotides Nucleic Acids (2004) [Pubmed]
 
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