PEROXISOMAL DISORDERS - CONCENTRATIONS OF METABOLITES IN CEREBROSPINAL-FLUID COMPARED WITH PLASMA

Peroxisomes are the metabolic sites of a variety of substrates that ar e poorly oxidized in mitochondria. Impairment of one or more peroxisom al functions results in serious disease. Most of the peroxisomal disor ders present with severe neurological abnormalities like psychomotor r etardation, hypotonia, seizures, hearing deficiencies and ocular invol vement (see Wanders et al (1988) for a review). In plasma from patient s with peroxisomal disorders very long-chain fatty acids (VLCFA), pipe colic acid (PIPA), bile acids, and pristanic (PrA) and phytanic (PhA) acids accumulate in varying degree. Little is known about the pathogen esis of neurological symptoms encountered in peroxisomal disorders. If disturbances in metabolism of peroxisomal substrates affect the centr al nervous system function, levels of these substrates in cerebrospina l fluid (CSF) may be of special relevance. So far, only PIPA concentra tions in CSF have been determined (Kok et al 1987). In this paper we r eport the analysis of VLCFA, bile acids di- and trihydroxycholestanoic acids (DHCA and THCA), PrA and PhA in CSF from healthy individuals an d some patients with various peroxisomal disorders, and comparison is made with plasma levels.