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) dehy dratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (D-BP) defic iency was performed by peroxisomal beta-oxidation assay, indirect immunoflu orescence staining, immunoblot analysis, and gene analysis of cultured amni ocytes obtained from a fetus at 16 weeks' gestational age. beta-Oxidation a ctivity, measured by [1-C-14] lignoceric acid oxidation, was markedly decre ased compared with the controls. Large peroxisomes were readily identified by immunofluorescence staining with anti-human catalase, as was found in th e reported patients. Immunoreactive D-BP material was absent on immunoblot analysis and immunofluorescence staining with anti-human D-BP. Reverse tran scriptase 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 see ms to be the first prenatal diagnosis of D-BP deficiency.