AICA-ribosiduria
Definition:
AICA-ribosiduria is a neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC. Defects of purine metabolism are characterised by abnormal concentrations of substrates of defective enzymes and/or their metabolites in cells or body fluids.
References:
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[1]. Petr Hornik, et al. Diagnosing AICA-ribosiduria by capillary electrophoresis. J Chromatogr B Analyt Technol Biomed Life Sci. 2006 Oct 20;843(1):15-9. [Content Brief]
[2]. Sandrine Marie, et al. 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. [Content Brief]
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