Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid
Identifieur interne : 00DF89 ( Main/Exploration ); précédent : 00DF88; suivant : 00DF90Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid
Auteurs : A. Poulos [Australie] ; C. Van Crugten [Australie] ; P. Sharp [Australie] ; W. F. Carey [Australie] ; E. Robertson [Australie] ; D. M. O. Becroft [Nouvelle-Zélande] ; J. M. Saudubray [France] ; B. T. Poll-The [France] ; E. Christensen [Danemark] ; N. Brandt [Danemark]Source :
- European Journal of Pediatrics [ 0340-6199 ] ; 1986-12-01.
Descripteurs français
- Wicri :
- topic : Acide.
English descriptors
- KwdEn :
- Acid, Activity phytanic acid, Activity substrate, Amniocytes, Basal medium, Caucasian woman, Chorionic, Chorionic villous cells, Classical form, Classical zellweger syndrome, Clin genet, Control range, Cultured amniocytes, Cultured chorionic villous cells, Cultured skin fibroblasts, Fatty acid ratios, Fetal calf serum, Fibroblast, First child, Fourth pregnancy, Hexacosanoic acid, Infantile, Infantile disease, Infantile refsum disease, Long chain, Oxidase, Phytanic, Phytanic acid, Phytanic acid oxidase, Phytanic acid oxidation, Phytanic acid storage disease, Plasma phytanate, Poulos, Prenatal, Prenatal detection, Prenatal diagnosis, Refsum, Refsum disease, Respiratory distress syndrome, Retinitis pigmentosa, Second pregnancy, Skin fibroblast phytanic acid oxidase activity, Skin fibroblasts, Syndrome, Villous, Vlcfa, Vlcfa oxidation, Weeks gestation, Zellweger, Zellweger syndrome.
- Teeft :
- Acid, Activity phytanic acid, Activity substrate, Amniocytes, Basal medium, Caucasian woman, Chorionic, Chorionic villous cells, Classical form, Classical zellweger syndrome, Clin genet, Control range, Cultured amniocytes, Cultured chorionic villous cells, Cultured skin fibroblasts, Fatty acid ratios, Fetal calf serum, Fibroblast, First child, Fourth pregnancy, Hexacosanoic acid, Infantile, Infantile disease, Infantile refsum disease, Long chain, Oxidase, Phytanic, Phytanic acid, Phytanic acid oxidase, Phytanic acid oxidation, Phytanic acid storage disease, Plasma phytanate, Poulos, Prenatal, Prenatal detection, Prenatal diagnosis, Refsum, Refsum disease, Respiratory distress syndrome, Retinitis pigmentosa, Second pregnancy, Skin fibroblast phytanic acid oxidase activity, Skin fibroblasts, Syndrome, Villous, Vlcfa, Vlcfa oxidation, Weeks gestation, Zellweger, Zellweger syndrome.
Abstract
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.
Url:
DOI: 10.1007/BF02429053
Affiliations:
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Le document en format XML
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<term>Activity phytanic acid</term>
<term>Activity substrate</term>
<term>Amniocytes</term>
<term>Basal medium</term>
<term>Caucasian woman</term>
<term>Chorionic</term>
<term>Chorionic villous cells</term>
<term>Classical form</term>
<term>Classical zellweger syndrome</term>
<term>Clin genet</term>
<term>Control range</term>
<term>Cultured amniocytes</term>
<term>Cultured chorionic villous cells</term>
<term>Cultured skin fibroblasts</term>
<term>Fatty acid ratios</term>
<term>Fetal calf serum</term>
<term>Fibroblast</term>
<term>First child</term>
<term>Fourth pregnancy</term>
<term>Hexacosanoic acid</term>
<term>Infantile</term>
<term>Infantile disease</term>
<term>Infantile refsum disease</term>
<term>Long chain</term>
<term>Oxidase</term>
<term>Phytanic</term>
<term>Phytanic acid</term>
<term>Phytanic acid oxidase</term>
<term>Phytanic acid oxidation</term>
<term>Phytanic acid storage disease</term>
<term>Plasma phytanate</term>
<term>Poulos</term>
<term>Prenatal</term>
<term>Prenatal detection</term>
<term>Prenatal diagnosis</term>
<term>Refsum</term>
<term>Refsum disease</term>
<term>Respiratory distress syndrome</term>
<term>Retinitis pigmentosa</term>
<term>Second pregnancy</term>
<term>Skin fibroblast phytanic acid oxidase activity</term>
<term>Skin fibroblasts</term>
<term>Syndrome</term>
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<term>Vlcfa oxidation</term>
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<front><div type="abstract" xml:lang="en">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.</div>
</front>
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