Prenatal diagnosis of Zellweger syndrome and related disorders: impaired degradation of phytanic acid.
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.
D000328:Adult; D000653:Amniotic Fluid / Q000378:metabolism; D002824:Chorionic Villi / Q000378:metabolism; D004537:Eicosanoic Acids / Q000378:metabolism*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006801:Humans; D066298:In Vitro Techniques; D007674:Kidney Diseases / Q000175:diagnosis*; D008107:Liver Diseases / Q000175:diagnosis*; D008297:Male; D010084:Oxidation-Reduction; D010831:Phytanic Acid / Q000378:metabolism*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D004537:Eicosanoic Acids; D010831:Phytanic Acid