Initial metabolic studies indicated severe non-ketotic C6-C10 dicarboxylic aciduria, plasma carnitine deficiency, and a characteristic elevation of plasma C:16:0, C18:1, and C18:2 acylcarnitine species. Enzyme assay confirmed deficiency of CACT activity. Molecular studies indicated that this child ...
Column: Bonchrom-C18(5 μm) 250 × 4.6 mm Temperature: 30° C. Mobile phase (v/v): 0.05 MKH2PO4/acetonitrile(60/40)(v/v) pH: 3.0 with H3PO4 Detection wavelength(λ): 205 nm Flow rate: 0.6 ml/min Carnitine: Rt = 5.6 min Fumaric acid: Rt = 12.3 min This present inv...
Results Screening of acyl-carnitine profile revealed free carnitine, C14, C16, C16-OH, C18 and C18:2-OH carnitine levels were higher (p<0,0001, p<0,0001, p<0,0001, p<0,0001 and p=0,004 respectively), while C6 carnitine levels were lower (p<0,0001) in JIA patients than the ...
Acylcarnitine (AC) was analyzed in both dried blood spots (DBS) and serum 2 h after birth to determine whether the boy was also affected. His C16 and C18:1 AC levels in DBS were in the normal range, while his serum long-chain AC levels were marginally increased but lower than those...
The fluorescent derivatives were isocratically separated on a reversed-phase column (C18). The eluate was monitored with a fluorimetric detector set at 248 nm (excitation wavelength) and 418 nm (emission wavelength). Because of the presence of endogenous carnitines, the validation was performed ...
We show that CPT2 is active with medium (C8–C12) and long-chain (C14–C18) acyl-CoA esters, whereas virtually no activity was found with short- and very long-chain acyl-CoAs or with branched-chain amino acid oxidation intermediates. Trans-2-enoyl-CoA intermediates were also found to be...