The cerebro‐hepato‐renal (Zellweger) syndrome: Prenatal detection based on impaired biosynthesis of plasmalogens

R. B.H. Schutgens, G. Schrakamp, R. J.A. Wanders, H. S.A. Heymans, H. W. Moser, A. E. Moser, J. M. Tagers, H. V.D. Bosch, P. Aubourm

Research output: Contribution to journalArticlepeer-review

Abstract

Prenatal diagnosis of the cerebro‐hepato‐renal (Zellweger) syndrome has been performed in 10 pregnancies at risk by measuring both the activity of acyl CoA: dihydroxyacetonephosphate acyltransferase (DHAP‐AT) and the de novo plasmalogen biosynthesis, either in cultured amniotic fluid cells or in fibroblasts cultured from a chorionic villus biopsy. In 7 of the pregnancies both tests indicated no abnormality. All 7 continued to term and normal infants were delivered. However, in amniotic fluid cells from 2 fetuses affected by Zellweger syndrome unequivocal differences from control values were found. The activity of DHAP‐AT was clearly deficient and the de novo plasmalogen biosynthesis was impaired. In one pregnancy at risk prenatal diagnosis was performed during the first trimester by measuring both the DHAP‐AT activity and the de novo plasmalogen biosynthesis in fibroblasts cultured from a chorionic villi biopsy. From the deficient DHAP‐AT activity and the impaired de novo plasmalogen biosynthesis it was concluded that the fetus was affected. This was confirmed biochemically after induced abortion. It can be concluded that measurement of the DHAP‐AT activity and the de novo plasmalogen biosynthesis provides convenient methods for the early prenatal detection of Zellweger syndrome.

Original languageEnglish (US)
Pages (from-to)337-344
Number of pages8
JournalPrenatal Diagnosis
Volume5
Issue number5
DOIs
StatePublished - Jan 1 1985

Keywords

  • Acyl‐CoA: dihydroxyacetonephosphate acyltransferase
  • Cerebro‐hepato‐renal syndrome of Zellweger
  • Peroxisomes
  • Plasmalogens

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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