KEGG   DISEASE: AICA-ribosiduria
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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of nucleotide metabolism
   H00966  AICA-ribosiduria
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C55  Inborn errors of purine, pyrimidine or nucleotide metabolism
     H00966  AICA-ribosiduria
Pathway
hsa00230  Purine metabolism
hsa00670  One carbon pool by folate
Gene
ATIC [HSA:471] [KO:K00602]
Other DBs
ICD-11: 5C55.0Y
ICD-10: E79.8
MeSH: C563876
OMIM: 608688
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)
DOI:10.1086/421475
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)
DOI:10.1016/j.jchromb.2006.05.020
LinkDB

» Japanese version

DBGET integrated database retrieval system