Abstract
The X-linked recessive Menkes disease (MD) is a multisystemic lethal disorder of copper metabolism, characterized by neurodegenerative symptoms and connective tissue manifestations. MD results from the malfunction of several important copper requiring enzymes due to a disturbance in the intracellular copper homeostasis. Though vitally important, copper is also highly toxic in excessive amounts and its destructive effects are reflected in the autosomal recessive Wilson disease. The Menkes locus is mapped to Xq13.3, and the disease gene (MNK) has been isolated by positional cloning. The predicted protein is a copper-binding P-type ATPase, the first intracellular copper transporter described in eukaryotes. Identification of MNK led to several important findings, such as isolation of its mouse orthologue, the gene defective in Wilson disease and its rat counterpart. In this review, mainly the recent advances in the genetics of Menkes disease and its consequences will be discussed. J. Trace Elem. Exp. Med. 11:147–161, 1998. © 1998 Wiley-Liss, Inc.
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