KEGG   DISEASE: H00966Help
Entry
H00966                      Disease                                

Name
AICA-ribosiduria;
ATIC deficiency
Description
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.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Purine metabolism
One carbon pool by folate
Gene
ATIC [HSA:471] [KO:K00602]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Marie S, Heron B, Bitoun P, Timmerman T, Van Den Berghe G, Vincent MF
  Title
AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC.
  Journal
Am J Hum Genet 74:1276-81 (2004)
Reference
  Authors
Hornik P, Vyskocilova P, Friedecky D, Adam T
  Title
Diagnosing AICA-ribosiduria by capillary electrophoresis.
  Journal
J Chromatogr B Analyt Technol Biomed Life Sci 843:15-9 (2006)

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