Prenatal and postnatal diagnosis of Menkes disease, an inherited disorder of copper metabolism

Journal of Inherited Metabolic Disease
T Tønnesen, N Horn

Abstract

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.

References

Jun 1, 1978·Pediatric Research·N G BeratisK Hirschhorn
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Jul 1, 1985·Prenatal Diagnosis·F SøndergaardN Tommerup
Dec 1, 1987·Clinical Genetics·T TønnesenN Horn
Jan 1, 1987·Current Problems in Dermatology·T TønnesenO A Jensen
Sep 1, 1987·Prenatal Diagnosis·T TønnesenE Damsgaard
Jan 1, 1983·Journal of Inherited Metabolic Disease·N Horn

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Citations

Dec 1, 1990·Journal of the Neurological Sciences·N H HerzbergP A Bolhuis
May 1, 1994·Brain & Development·L SztrihaK Buga
Jul 27, 2001·Brain Research Bulletin·D StrausakG Multhaup
Sep 1, 1991·Journal of Medical Genetics·T TønnesenA M Gerdes
Aug 1, 1994·Journal of Medical Genetics·Z TümerN Horn
Apr 1, 1997·Journal of Medical Genetics·Z Tümer, N Horn
Oct 23, 1998·Journal of Medical Genetics·F W VerheijenG M Mancini
Nov 1, 1995·Journal of Neurology, Neurosurgery, and Psychiatry·P D Swanson
Jan 24, 2012·Orphanet Journal of Rare Diseases·Lisbeth Birk MøllerThomas G Jensen
Oct 1, 1993·European Journal of Pediatrics·J KreuderD Dralle
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Oct 1, 1993·Journal of the Neurological Sciences·A S WierzbickiP T Lascelles
Sep 7, 1999·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·J H Menkes
Aug 13, 2002·Dermatologic Clinics·Joseph S BarbagalloJeffrey M Weinberg
Jan 1, 1997·Critical Reviews in Biotechnology·J S SandhuN Hozumi
Jan 7, 2011·Clinical Genetics·M-P MoizardM Raynaud
Jul 8, 2011·Current Protocols in Human Genetics·Lisbeth B MøllerStephen G Kaler

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