Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism.
105 patients with Menkes disease have been diagnosed from 64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of 64Cu from the medium for 16 Menkes patients. Second-trimester prenatal diagnosis has been performed in 80 pregnancies with male karyotype. These 64Cu-uptake results show some overlap between the upper end of the normal range and the lower end of the Menkes range. Results are presented to show that a combination of 64Cu-uptake and chase results offers a better diagnostic potential than 64Cu-uptake per se. Chorionic villus copper values from 53 first-trimester prenatal diagnoses are presented. Maternal deciduum from some of these pregnancies contain similar high amounts of copper as found in the chorionic villus samples from affected fetuses. 64Cu-uptake in cultured chorionic villi from affected fetuses and unaffected fetuses is not discriminatory. Chase results seem however to offer a better diagnostic potential.
Tønnesen
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John F. Kennedy Institute, Glostrup, Denmark.
Horn
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D001928:Brain Diseases, Metabolic; D002824:Chorionic Villi / Q000187:drug effects / Q000378:metabolism*; D003300:Copper / Q000493:pharmacokinetics; D005260:Female; D006801:Humans; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis*; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis
D003300:Copper