Molecular basis of D-bifunctional protein deficiency

Peroxisomal disorders appear with a frequency of 1:5000 in newborns. They a re caused either by peroxisomal assembly defects or by deficiencies of sing le peroxisomal enzymes. The phenotypes vary widely: affected humans may die very early in life within a few days to several months as a result of the impairment in essential peroxisomal functions as, for example, in Zellweger syndrome, or they may show only minor disabilities as is in acatalasemia. The deficiency of D-bifunctional protein, an enzyme involved in peroxisomal beta -oxidation of certain fatty acids and the synthesis of bile acids. ca uses a very severe. Zellweger-like phenotype. A number of different mutatio ns in the gene coding for the enzyme were found in humans causing the total or partial loss of its enzymatic function. This paper gives a review of ca ses and their molecular basis. (C) 2001 Elsevier Science ireland Ltd. All r ights reserved.