Prenatal and postnatal diagnosis of diseases of copper metabolism.
Menkes' kinky hair disease can be successfully diagnosed both prenatally and postnatally using cultured skin fibroblasts derived from the patient or amniotic fluid cells from the affected fetus. Determination of intracellular copper concentration under normal and copper loaded conditions, as well as examination of the kinetics of copper retention may be necessary for diagnosis. At present, cell culture techniques have been proven to be applicable for postnatal diagnosis of Wilson's disease. More investigation is necessary to determine whether or not the present method for prenatal diagnosis of this disease is possible.
D000293:Adolescent; D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D001923:Brain Chemistry; D001928:Brain Diseases, Metabolic / Q000175:diagnosis*; D002478:Cells, Cultured; D002570:Ceruloplasmin / Q000032:analysis; D002675:Child, Preschool; D003300:Copper / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D006527:Hepatolenticular Degeneration / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007413:Intestinal Mucosa / Q000032:analysis; D007668:Kidney / Q000032:analysis; D008099:Liver / Q000032:analysis; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics; D011181:Postnatal Care; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D003300:Copper; D002570:Ceruloplasmin