Menkes' syndrome


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Menkes' syndrome

 [mengks]
an X-linked recessive abnormality in copper absorption marked by sparse, brittle scalp hair and by severe cerebral degeneration and arterial changes resulting in death in infancy.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
References in periodicals archive ?
Glover of the Howard Hughes Medical Institute at the University of Michigan in Ann Arbor - report their discovery of the Menkes' syndrome gene in the January Nature Genetics.
Packman's and Glover's groups found that the gene, which lies on the X chromosome, failed to function properly in 23 out of 32 unrelated patients with Menkes' syndrome. Monaco's group found that 16 of 100 such patients lacked portions of the gene.
Moreover, each of the research teams determined that the Menkes' syndrome gene strongly resembles bacterial genes known to transport copper across cell membranes.