Prenatal diagnosis of peroxisomal D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency.
The prenatal diagnosis of peroxisomal D-3-hydroxyacyl-coenzyme A (CoA) dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-BP) deficiency was performed by peroxisomal beta-oxidation assay, indirect immunofluorescence staining, immunoblot analysis, and gene analysis of cultured amniocytes obtained from a fetus at 16 weeks' gestational age. beta-Oxidation activity, measured by [1-14C] lignoceric acid oxidation, was markedly decreased compared with the controls. Large peroxisomes were readily identified by immunofluorescence staining with anti-human catalase, as was found in the reported patients. Immunoreactive D-BP material was absent on immunoblot analysis and immunofluorescence staining with anti-human D-BP. Reverse transcriptase polymerase chain reaction (RT-PCR) analysis revealed the presence of the same 237-bp deletion in the cDNA as that detected in a sibling (the proband). The autopsied fetus showed the characteristic facial appearance and D-BP was deficient on immunoblot and immunohistopathological studies of the fetal tissues. No neuronal migration disorder was identified. This seems to be the first prenatal diagnosis of D-BP deficiency.
D015067:17-Hydroxysteroid Dehydrogenases; D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D000650:Amnion / Q000166:cytology / Q000201:enzymology; D044466:Asian People; D002478:Cells, Cultured; D004746:Enoyl-CoA Hydratase; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000201:enzymology; D019084:Fluorescent Antibody Technique, Indirect; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency*; D007231:Infant, Newborn; D007564:Japan; D008099:Liver / Q000201:enzymology; D009097:Multienzyme Complexes / Q000172:deficiency*; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000201:enzymology; D064029:Peroxisomal Multifunctional Protein-2; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*