ABSTRACT
In this study, the biochemical quantification of very long chain fatty acids [VLCFAs] verified the diagnosis of peroxisomal disorders in 25 out of 30 clinically suspected patients, their ages ranged from 3 months to 18 years. The control group consisted of ten healthy children matched for age and sex. All patients were subjected to full clinical examination, biochemical investigations including VLCFAs, liver and kidney function tests, neurophysiological examination including magnetic resonance image [MRI], electroencephalogram [EEG], auditory brain response [ABR] and visual evoked potential [VEP]. A neuropsychological evaluation was done to assess five psychological abilities [language, visual perception, memory, attention and psychomotor] and a global neuropsychological impairment score was developed. The subjects were subclassified into five groups according to the clinical and biochemical findings [neonatal ALD group [60%], adult ALD group [16%], adult Refsum's group [12%], Zellweger syndrome [87%] and rhizomelic chondrodysplasia punctata [4%]]. The main clinical, biochemical, neurophysiological and neuropsychological results were described among patients and control groups. In conclusion, the quantification of VLCFAs can be used as a highly reliable screening test for peroxisomal disorders, which also correlates with the severity of the disease and with the neurophysiological and neuropsychological impairment