THE INBORN-ERRORS OF PEROXISOMAL BETA-OXIDATION - A REVIEW

In recent years a growing number of inherited diseases in man have been recognized in which there is an impairment in peroxisomal β-oxidation. In some diseases this is due to the (virtual) absence of peroxisomes leading to a generalized loss of peroxisomal functions including peroxisomal β-oxidation. In most inborn errors of peroxisomal β-oxidation, however, peroxisomes are normally present and the impairment in peroxisomal β-oxidation is due to the single or multiple loss of peroxisomal β-oxidation enzyme activities. In all these disorders there is accumulation of very-long-chain fatty acids in plasma, which allows biochemical diagnosis of patients affected by an inborn error of peroxisomal β-oxidation to be done via gas-chromatographic analysis of plasma very-long-chain fatty acids. Subsequent enzymic and immunological investigations are required to identify the precise enzymic defects in these patients. In all inborn errors of peroxisomal β-oxidation known today there are multiple abnormalities, especially neurological with death usually occurring in the first decade of life. Prenatal diagnosis of these disorders has recently become possible. © 1990 Kluwer Academic Publishers.