[Clinical features of the peroxisomal disorders]

The peroxisomal disorders belong to a group of inborn errors of metabolism due to malformation or malfunction of these subcellular organelles. Their clinical features vary with age. However, the commonest form presents in the syndrome of Zellweger with severe hypotonia, craniofacial dysmorphism, stippled calcifications, renal cortical cysts and liver dysfunction. By means of complementation very long tests 17 different genotypes have been identified and in 15 of these there were neurological changes. Diagnosis requires recognition of the clinical features, raised levels of very long chain fatty acids, and radiological and neuroimaging studies.