Adenylosuccinate Lyase Deficiency


Adenylosuccinate Lyase Deficiency. (Adenylosuccinase Deficiency ; Adenylosuccinate monophosphate lyase deficiency) is a rare autosomal recessive disease caused by a mutation in the ADSL gene which codes for adenylosuccinate lyase. A deficiency in this enzyme results in accumulation of succinyladenosine in plasma, spinal fluid, and urine. Symptoms, which present at birth, include hyptonia, seizures, mental retardation, and encephalopathy. Treatment includes allopurinol.

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References

  1. Engelke, U.F.H., S.H. Moolenaar, S.M.G.C. Hoenderop, E. Morava, M. van der Graaf, A. Heerschap and R.A. Wevers. 2007. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy. SPS Publications,The Netherlands.
  2. Uniprot: P30566
  3. OMIM: Entry 103050
  4. Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. (2007). Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (pp 25) (2nd ed). Heilbronn: SPS Verlagsgesellschaft
  5. Edery P, Chabrier S, Ceballos-Picot I, Marie S, Vincent MF, Tardieu M: Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients. Am J Med Genet A. 2003 Jul 15;120A(2):185-90. Pubmed
  6. Jaeken J, Van den Bergh F, Vincent MF, Casaer P, Van den Berghe G: Adenylosuccinase deficiency: a newly recognized variant. J Inherit Metab Dis. 1992;15(3):416-8. Pubmed
  7. Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, Theunissen PM, de Cock P, van den Bergh F, Vincent MF, et al.: Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr. 1988 Nov;148(2):126-31. Pubmed
  8. Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola EZ, Gu XX, Legius E, Vincent MF, Jaeken J, Cassiman JJ, Van den Berghe G: Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence. Hum Mutat. 1999;13(3):197-202. Pubmed
  9. Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF: AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Am J Hum Genet. 2004 Jun;74(6):1276-81. Epub 2004 Apr 26. Pubmed