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• W2087303310 abstract "SummaryPeroxisomal β-oxidation proceeds from enoyl-CoA through d-3-hydroxyacyl-CoA to 3-ketoacyl-CoA by the d-3-hydroxyacyl-CoA dehydratase/d-3-hydroxy-acyl-CoA dehydrogenase bifunctional protein (d-bifunctional protein), and the oxidation of bile-acid precursors also has been suggested as being catalyzed by the d-bifunctional protein. Because of the important roles of this protein, we reinvestigated two Japanese patients previously diagnosed as having enoyl-CoA hydratase/l-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (l-bifunctional protein) deficiency, in complementation studies. We found that both the protein and the enzyme activity of the d-bifunctional protein were hardly detectable in these patients but that the active l-bifunctional protein was present. The mRNA level in patient 1 was very low, and, for patient 2, mRNA was of a smaller size. Sequencing analysis of the cDNA revealed a 52-bp deletion in patient 1 and a 237-bp deletion in patient 2. This seems to be the first report of d-bifunctional protein deficiency. Patients previously diagnosed as cases of l-bifunctional protein deficiency probably should be reexamined for a possible d-bifunctional protein deficiency. Peroxisomal β-oxidation proceeds from enoyl-CoA through d-3-hydroxyacyl-CoA to 3-ketoacyl-CoA by the d-3-hydroxyacyl-CoA dehydratase/d-3-hydroxy-acyl-CoA dehydrogenase bifunctional protein (d-bifunctional protein), and the oxidation of bile-acid precursors also has been suggested as being catalyzed by the d-bifunctional protein. Because of the important roles of this protein, we reinvestigated two Japanese patients previously diagnosed as having enoyl-CoA hydratase/l-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (l-bifunctional protein) deficiency, in complementation studies. We found that both the protein and the enzyme activity of the d-bifunctional protein were hardly detectable in these patients but that the active l-bifunctional protein was present. The mRNA level in patient 1 was very low, and, for patient 2, mRNA was of a smaller size. Sequencing analysis of the cDNA revealed a 52-bp deletion in patient 1 and a 237-bp deletion in patient 2. This seems to be the first report of d-bifunctional protein deficiency. Patients previously diagnosed as cases of l-bifunctional protein deficiency probably should be reexamined for a possible d-bifunctional protein deficiency." @default.
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• W2087303310 date "1997-11-01" @default.
• W2087303310 modified "2023-10-17" @default.
• W2087303310 title "d-3-Hydroxyacyl-CoA Dehydratase/d-3-Hydroxyacyl-CoA Dehydrogenase Bifunctional Protein Deficiency: A Newly Identified Peroxisomal Disorder" @default.
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• W2087303310 doi "https://doi.org/10.1086/301599" @default.
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