- Metabolite
- HMDB0000244 (Riboflavin)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 0.00502 uM
- Age
- Adolescent (13-18 years old)
- Sex
- Not Available
- Condition
- Brown-Vialetto-Van Laere Syndrome 1
References
- Udhayabanu T, Subramanian VS, Teafatiller T, Gowda VK, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B: SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta. 2016 Nov 1;462:210-214. doi: 10.1016/j.cca.2016.09.022. Epub 2016 Oct 1. [PubMed:27702554 ]