Menkes' Kinky Hair Disease: Further Definition of the Defect in Copper Transport

Abstract

Duodenal mucosa obtained from two patients with Menkes' syndrome contained abnormally large amounts of copper. The defect in copper absorption in this disease must lie in the process of intracellular handling or of transport across the serosal cell membrane. Fibroblastic cells cultured from the skin of patients and of heterozygous females show intense metachromasia in primary culture which disappears in subculture. These cells may be useful for the study of copper transport in vitro and for the identification of heterozygotes in affected families.

Neuroimaging Changes in Menkes Disease, Part 1

“…Intracranial artery elongation has been related to decreased activity of the copper-dependent lysyl oxidase, which is involved in elastin and collagen cross-linking, resulting in structural impairment of the blood vessel wall. [9][10][11][12][13][14][15] Because during the whole intrauterine life, the circulating copper is provided by the mother, early vascular wall impairment points to a key role of ATP7A for lysyl oxidase function within the cell. 16 The absence of intracranial artery ectasia and stenosis, either at onset or at follow-up, is another important result.…”

Copper-binding proteins in the liver and kidney from the patients with Menkes' kinky hair disease.

“…Although at first the etiology of MKHD was attributed to intestinal copper malabsorption, recent studies revealed that copper accumulated in the kidney, duodenal mucosa, muscle and spleen, while it decreased in the liver and brain (Danks et al 1973;Nooijen et al 1981).…”

Determination of Apoceruloplasmin by Radioimmunoassay in Nutritional Copper Deficiency, Menkes' Kinky Hair Syndrome, Wilson's Disease, and Umbilical Cord Blood

“…In Menkes' syndrome the concentration of body copper is low because of defective transport across intestinal mucosal cells (5).…”