- Metabolite
- HMDB0000797 (SAICAR)
- Biospecimen
- Cerebrospinal Fluid (CSF)
- Status
- Detected but not Quantified
- Data source
- Referenced
- Concentration
- Not Quantified
- Age
- Children (1-13 years old)
- Sex
- Female
- Condition
- ATIC deficiency
References
- 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. 2004 Jun;74(6):1276-81. Epub 2004 Apr 26. [PubMed:15114530 ]