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Case Reports
. 1986 Dec;145(6):507-10.
doi: 10.1007/BF02429053.

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

A 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
Case Reports

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

A Poulos et al. Eur J Pediatr. 1986 Dec.

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.

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