title: Molecular basis of D-bifunctional protein deficiency.
abstract: Peroxisomal disorders appear with a frequency of 1:5000 in newborns. They are caused either by peroxisomal assembly defects or by deficiencies of single 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, causes a very severe, Zellweger-like phenotype. A number of different mutations 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 cases and their molecular basis.
authors.affiliation: GSF-National Research Center of Environment and Health, Institute of Experimental Genetics, Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany. gabriele.moeller@gsf.de
authors.forename: G
authors.initials: G
authors.lastname: Möller
authors.forename: E G
authors.initials: EG
authors.lastname: van Grunsven
authors.forename: R J
authors.initials: RJ
authors.lastname: Wanders
authors.forename: J
authors.initials: J
authors.lastname: Adamski
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000818:Animals; D004746:Enoyl-CoA Hydratase; D016368:Frameshift Mutation; D017353:Gene Deletion; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000235:genetics*; D007231:Infant, Newborn; D009097:Multienzyme Complexes / Q000172:deficiency* / Q000235:genetics*; D064029:Peroxisomal Multifunctional Protein-2; D017354:Point Mutation; D011110:Polymorphism, Genetic
chemical_list: D009097:Multienzyme Complexes; D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human; D004746:Enoyl-CoA Hydratase