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Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism
Author(s) -
Tønnesen T.,
Horn N.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799296
Subject(s) - menkes disease , chorionic villi , prenatal diagnosis , fetus , pregnancy , metabolic disease , chorionic villus sampling , endocrinology , copper , biology , copper metabolism , medicine , obstetrics , chemistry , genetics , organic chemistry
Summary 105 patients with Menkes disease have been diagnosed from 64 Cu‐uptake studies in fibroblasts. These results are presented together with chase results following removal of 64 Cu from the medium for 16 Menkes patients. Second‐trimester prenatal diagnosis has been performed in 80 pregnancies with male karyotype. These 64 Cu‐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 64 Cu‐uptake and chase results offers a better diagnostic potential than 64 Cu‐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. 64 Cu‐uptake in cultured chorionic villi from affected fetuses and unaffected fetuses is not discriminatory. Chase results seem however to offer a better diagnostic potential.