- Metabolite
- HMDB0000190 (Lactic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 11800 (6500-19900) uM
- Age
- Infant (0-1 year old)
- Sex
- Both
- Condition
- GRACILE syndrome
Comments
Concentration: median(IQ25-IQ75). n=21. Higher than control
References
- Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L: GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76. Epub 2002 Sep 5. [PubMed:12215968 ]