- Metabolite
- HMDB0000062 (L-Carnitine)
- Biospecimen
- Blood
- Status
- Detected and Quantified
- Data source
- Referenced
- Concentration
- 43-51 uM
- Age
- Infant (0-1 year old)
- Sex
- Male
- Condition
- 3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
Comments
Free carnitine.
References
- Popa FI, Perlini S, Teofoli F, Degani D, Funghini S, La Marca G, Rinaldo P, Vincenzi M, Antoniazzi F, Boner A, Camilot M: 3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations. JIMD Rep. 2012;2:71-7. doi: 10.1007/8904_2011_50. Epub 2011 Sep 6. [PubMed:23430856 ]