title: Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
abstract: Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal beta-oxidation enzyme and rhizomelic type chondrodysplasia punctata were investigated by means of the lignoceric acid oxidation assay, indirect immunofluorescence staining and pulse-chase experiments, using cultured amniocytes. Assessment of peroxisomal beta-oxidation activity by means of [1-14C]lignoceric acid oxidation is essential for the diagnosis of a single enzyme deficiency of peroxisomal beta-oxidation with detectable enzyme protein. For the diagnosis of Zellweger syndrome, the absence of peroxisomes was readily determined by immunofluorescence staining of only a few amniocytes. Evidence for abnormal processing of 3-ketoacyl-CoA thiolase leads to the diagnosis of rhizomelic chondrodysplasia punctata. All the fetuses were considered to be normal and the neonates were normal. Use of these methods requires only a small number of amniocytes and will facilitate the prenatal diagnosis of peroxisomal disorders.
authors.affiliation: Department of Pediatrics, Gifu University School of Medicine, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: N
authors.initials: N
authors.lastname: Shimozawa
authors.forename: I
authors.initials: I
authors.lastname: Kawabata
authors.forename: S
authors.initials: S
authors.lastname: Yajima
authors.forename: K
authors.initials: K
authors.lastname: Inoue
authors.forename: Y
authors.initials: Y
authors.lastname: Uchida
authors.forename: K
authors.initials: K
authors.lastname: Izai
authors.forename: S
authors.initials: S
authors.lastname: Tomatsu
authors.forename: N
authors.initials: N
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Orii
mesh_terms: D000102:Acetyl-CoA C-Acyltransferase / Q000378:metabolism; D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism*; D002675:Child, Preschool; D002806:Chondrodysplasia Punctata / Q000175:diagnosis; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D008830:Microbodies / Q000378:metabolism*; D010084:Oxidation-Reduction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D015211:Zellweger Syndrome / Q000175:diagnosis
chemical_list: D005227:Fatty Acids; D000102:Acetyl-CoA C-Acyltransferase; C010210:lignoceric acid