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Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.

Abstract
Normal amniocytes and chorionic villous cells in culture are able to produce 14CO2 from exogenous [1-14C] phytanic acid. In contrast, cells from four fetuses at risk for the cerebro-hepato-renal (Zellweger) syndrome and related disorders showed a greatly reduced activity, indicating a block in oxidation of the fatty acid. Our data confirm that phytanic acid oxidase activity measurement can be used for the prenatal assessment of this group of disorders.
AuthorsA Poulos, C van Crugten, P Sharp, W F Carey, E Robertson, D M Becroft, J M Saudubray, B T Poll-The, E Christensen, N Brandt
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 145 Issue 6 Pg. 507-10 (Dec 1986) ISSN: 0340-6199 [Print] Germany
PMID3816854 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Eicosanoic Acids
  • Phytanic Acid
Topics
  • Adult
  • Amniotic Fluid (metabolism)
  • Chorionic Villi (metabolism)
  • Eicosanoic Acids (metabolism)
  • Facial Bones (abnormalities)
  • Female
  • Humans
  • In Vitro Techniques
  • Kidney Diseases (diagnosis)
  • Liver Diseases (diagnosis)
  • Male
  • Oxidation-Reduction
  • Phytanic Acid (metabolism)
  • Pregnancy
  • Prenatal Diagnosis
  • Skull (abnormalities)
  • Syndrome

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