- Metabolite
- HMDB0000190 (Lactic acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1800-7700 uM
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- 2,4-dienoyl-CoA reductase deficiency
References
- Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ: Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. Hum Mol Genet. 2014 Sep 15;23(18):5009-16. doi: 10.1093/hmg/ddu218. Epub 2014 May 8. [PubMed:24847004 ]