title: Menkes disease: underlying genetic defect and new diagnostic possibilities.
abstract: Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these findings had important consequences from a clinical point of view. Today the underlying genetic defect has been described in several patients affected by one of the three hereditary disorders of copper metabolism: Menkes disease, occipital horn syndrome and wilson disease. In this review we discuss mainly Menkes disease and the impact of the recent findings on the diagnosis of this disorder.
authors.affiliation: Department of Medical Genetics, Panum Institute, University of Copenhagen, Denmark.
authors.forename: Z
authors.initials: Z
authors.lastname: Tümer
authors.forename: N
authors.initials: N
authors.lastname: Horn
mesh_terms: D000818:Animals; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000175:diagnosis* / Q000235:genetics*