- Metabolite
- HMDB0000011 (3-Hydroxybutyric acid)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 64 uM
- Age
- Infant (0-1 year old)
- Sex
- Female
- Condition
- 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Comments
n=1
References
- Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pie J, Hoffmann GF, Hegardt FG, Mayatepek E: The diagnosis of mitochondrial HMG-CoA synthase deficiency. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. [PubMed:12072887 ]