Abstract:
Peroxisomes have an indispensable role in cellular metabolism (Wanders et a/,
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.
