'n Biochemiese benadering tot die identifisering van peroksisomale defekte

Abstract

Peroxisomes have an indispensable role in cellular metabolism (Wanders et al, 2001). Peroxisomal disorders are characterized by abnormal pathogenesis (Moser, 1999), and metabolically by accumulation of very long chain fatty acids (VLCFA), phytanic acid and pristanic acid. The estimation of these metabolites in serum is therefore the recommended first line test for diagnosing patients (Korman et al, 2000). Rapid, sensitive analyses of VLCFA, phytanic acid and pristanic acid are performed through the use of gas chromatography mass spectrometry with stable isotopes of every metabolite as internal standards (Vreken et al, 1998). This method has been successfully implemented and standardised for the South-African population during this study. Secondary to the primary biochemical disturbance are the excretion of dicarboxylic acids and other organic acids. Due to the absence of a simple screening test for peroxisomal disorders, the frequent absence of clinical information of patients and because the estimation of VLCFA is not part of the routine analysis of a metabolic screen, we investigated the possibility to use these secondary metabolites as a screening test. Results on these screening metabolites concluded that the presence of secondary metabolites can be used as a screening method for peroxisomal disorders, especially peroxisomal biogenesis disorders (PBD). Because of the presence of these secondary metabolites in other metabolic diseases, the clinical information are still of great importance in the diagnosis of peroxisomal disorders.