AICA-Ribosiduria


AICA-ribosiduria is a metabolic disease caused by a defect in final steps of purine de novo biosynthesis. This defect is caused by a mutation in the ATIC which codes for bifunctional purine biosynthesis protein PURH. A deficiency in this enzyme results in accumulation of 5-aminoimidazole-4-carboxamide in urine. Symptoms include mental retardation, epilepsy, dysmorphic features, and congenital blindness.

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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: P31939
  3. OMIM: Entry 608688
  4. Greasley SE, Horton P, Ramcharan J, Beardsley GP, Benkovic SJ, Wilson IA: Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis. Nat Struct Biol. 2001 May;8(5):402-6. Pubmed
  5. 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