- Metabolite
- HMDB0000062 (L-Carnitine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 10-21 uM
- Age
- Infant (0-1 year old)
- Sex
- Not Available
- Condition
- Mitochondrial trifunctional protein deficiency
Comments
Total carnitine
References
- den Boer ME, Dionisi-Vici C, Chakrapani A, van Thuijl AO, Wanders RJ, Wijburg FA: Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement. J Pediatr. 2003 Jun;142(6):684-9. doi: 10.1067/mpd.2003.231. [PubMed:12838198 ]