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.
Inherited metabolic disease
Human diseases [BR:
Congenital disorders of metabolism
Congenital disorders of nucleotide metabolism
Human diseases in ICD-11 classification [BR:
05 Endocrine, nutritional or metabolic diseases
Inborn errors of metabolism
5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism
One carbon pool by folate
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 74:1276-81 (2004)
Hornik P, Vyskocilova P, Friedecky D, Adam T
Diagnosing AICA-ribosiduria by capillary electrophoresis.
J Chromatogr B Analyt Technol Biomed Life Sci 843:15-9 (2006)
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