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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Authors | 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 |
Journal | European journal of pediatrics
(Eur J Pediatr)
Vol. 145
Issue 6
Pg. 507-10
(Dec 1986)
ISSN: 0340-6199 [Print] Germany |
PMID | 3816854
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Eicosanoic Acids
- Phytanic Acid
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Topics |
- Adult
- Amniotic Fluid
(metabolism)
- Chorionic Villi
(metabolism)
- Eicosanoic Acids
(metabolism)
- Facial Bones
(abnormalities)
- Female
- Humans
- In Vitro Techniques
- Kidney Diseases
(diagnosis)
- Liver Diseases
(diagnosis)
- Male
- Oxidation-Reduction
- Phytanic Acid
(metabolism)
- Pregnancy
- Prenatal Diagnosis
- Skull
(abnormalities)
- Syndrome
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