Fibroblasts Acylcarnitines Palmitate Load TFP-LCHAD

Published: 29 December 2022| Version 1 | DOI: 10.17632/hs9t22ydy7.1
Eduardo Vieira Neto,


Excel spreadsheet with the acylcarnitine profiles of TFP/LCHAD deficiency fibroblasts and controls after unlabeled palmitate load (Okun et al method).


Steps to reproduce

Acylcarnitine profiling in fibroblasts was performed after a challenge with unlabeled palmitic acid, according to Okun et al. 2002. Fibroblasts were plated in 6-well plates and grown for 72 h. After this period, cells were incubated in media containing palmitic acid (200 mmol/L), L-carnitine (400 mmol/L), and bovine serum albumin (0.4%). After 72-h incubation, medium was collected and prepared for electrospray ionization-tandem mass spectrometry (ESI-MS/MS), according to previously published methods: 1. Okun, J.G., Kölker, S., Schulze, A., Kohlmüller, D., Olgemöller, K., Lindner, M., Hoffmann, G.F., Wanders, R.J., and Mayatepek, E. (2002). A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency. Biochim Biophys Acta 1584, 91-98. 10.1016/s1388-1981(02)00296-2. 2. Shen, J.J., Matern, D., Millington, D.S., Hillman, S., Feezor, M.D., Bennett, M.J., Qumsiyeh, M., Kahler, S.G., Chen, Y.T., and Van Hove, J.L. (2000). Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inherit Metab Dis 23, 27-44. 10.1023/a:1005694712583. 3. Smith, E.H., and Matern, D. (2010). Acylcarnitine analysis by tandem mass spectrometry. Curr Protoc Hum Genet Chapter 17, Unit 17.18.11-20. 10.1002/0471142905.hg1708s64.


University of Pittsburgh


Inborn Error of Metabolism, Fatty Acid Oxidation, Liquid Chromatography Tandem Mass Spectrometry