Hany F. Sobhi
Coppin State University, USA
Title: Synthesis & spectroscopic characterization of acyl carnitine derivatives, for the diagnosis of fatty acid β-oxidation disorder
Biography
Biography: Hany F. Sobhi
Abstract
β-Oxidation of acyl-CoAs in mitochondria [1] produces various acylcarnitines that appear in blood and are excreted into urine. Acylcarnitine profiles have been used as biomarker for the diagnoses specific inherited metabolic diseases, [2] such as medium-chain acyl- CoAdehydrogenase deficiency (MCAD) [3], (MADD) [4], (VLCAD) [5], and long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) [6] by using tandem mass spectrometry. Carnitine acyltransferace enzymes reversibly interconvert acyl-CoA and, acylcarnitine derivatives, thereby it catalyze the translocation of the fatty acyl moiety across the mitochondrial membrane. The identification of the carnitine ester has not been recognized by tandem mass spectrometry. We have established a method based on O-Acylation of carnitine chloride, and /or replacement of the acid chloride by equimolecular amount of thionyl chloride followed by the addition of carnitine chloride. We have synthesized of a series of Acyl-carnitine derivatives such as Cis-5- , and Trans-5 Tetradecenoyl carnitine carnitine, and Trans -2-Tetradecenoyl carnitine. The synthesized carnitine derivatives was fully characterized by NMR, GC/EI-MS, LC/MS. The isolation of the C14:1 acylcarnitine from human urine, will be transesterified to form ester derivative, and characterized, these results will be compared to those standard carnitines. The standards will then spiked in urine, and detected by HPLC/MS. Based on the data that we expect from the analyses we can develop an assay for the detection of the acyl carnitine. Following the same methodology we will synthesis several Acyl carnitine derivatives and develop a general Chromatography based assay for detection of small , Medium a, and long chains Acyl carnitine in urine.