- Metabolite
- HMDB0000062 (L-Carnitine)
- Biospecimen
- Urine
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 1.517 umol/mmol creatinine
- Age
- Children (1-13 years old)
- Sex
- Not Available
- Condition
- Carnitine transporter defect; primary systemic carnitine deficiency
Comments
Total carnitine
References
- Waber LJ, Valle D, Neill C, DiMauro S, Shug A: Carnitine deficiency presenting as familial cardiomyopathy: a treatable defect in carnitine transport. J Pediatr. 1982 Nov;101(5):700-5. [PubMed:7131143 ]