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.
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Abbreviations
- VLCFA:
-
very long chain fatty acids
- DHAPAT:
-
dihydroxyacetone phosphate acyltransferase
- BME:
-
basal Eagle's medium
- FCS:
-
fetal calf serum
- C26:0:C22:0 :
-
hexacosanoic acid: docosanoic acid
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Poulos, A., van Crugten, C., Sharp, P. et al. Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid. Eur J Pediatr 145, 507–510 (1986). https://doi.org/10.1007/BF02429053
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DOI: https://doi.org/10.1007/BF02429053