Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid
- 1 December 1986
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 145 (6) , 507-510
- https://doi.org/10.1007/bf02429053
Abstract
Normal amniocytes and chorionic villous cells in culture are able to produce14CO2 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.Keywords
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