H00966 | |
H number | H00966 |
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 disorder |
Network | - |
Gene | ATIC [HSA:471] [KO:K00602] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5C55.0Y ICD-10: E79.8 MeSH: C563876 OMIM: 608688 |
Reference | PMID:15114530 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 PMID:16798121 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 |