ISSN:
1432-1076
Keywords:
Zellweger syndrome
;
Prenatal diagnosis
;
Phytanic acid
;
Amniocytes
;
Chorionic villous cells
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02429053
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