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Research Article| Volume 16, ISSUE 1, P27-31, January 1994

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Prenatal diagnosis of peroxisomal disorders Biochemical and immunocytochemical studies on peroxisomes in human amniocytes

DOI:https://doi.org/10.1016/0387-7604(94)90109-0
Prenatal diagnosis of peroxisomal disorders Biochemical and immunocytochemical studies on peroxisomes in human amniocytes
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      Abstract

      Prenatal diagnoses of peroxisomal disorders, including peroxisome-deficient Zellweger syndrome, isolated deficiency of peroxisomal β-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 β-oxidation activity by means of [1-14C]lignoceric acid oxidation is essential for the diagnosis of a single enzyme deficiency of peroxisomal β-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 aminocytes. 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.

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      Article info

      Publication history

      Accepted: August 25, 1993
      Received: April 4, 1993

      Identification

      DOI: https://doi.org/10.1016/0387-7604(94)90109-0

      Copyright

      © 1994 Elsevier Science B.V. All rights reserved. Published by Elsevier Inc.

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