Menkes kinky hair syndrome

Copper Anaemia Menkes (kinky hair) syndrome Cardiac abnormalities/heart disease Wilson s disease Hepatic injury and jaundice Headache, vomiting Haemolytic shock... 

J. M., Bloomfield, J., Turner, B., Menkes-Kinky Hair Syndrome, Lancet (1972) 1,1000-1103. 

Some of these symptoms are seen among people who suffer from the rare genetic disease known as Menkes kinky hair syndrome. The symptoms of this disease, which is caused by a defect in the ability to absorb copper from the intestine, include very low copper levels in the serum, kinky white hair, slowed growth, and degeneration of the brain. 

Packman S, O Toole C, Price DC, Thaler MM (1983) Cadmium, zinc, and copper metabolism in the mottled mouse, an animal model for Menkes kinky hair syndrome. J Inorg Biochem 19 203-211... 

B. J., Gillespie, J. M., Blomfield, J., and Turner, B. (1972b) Menkes kinky-hair syndrome. Lancet 1 1100. 

Garnica, A. D., and Fletcher, S. R, (1975) Parenteral copper in Menkes kinky-hair syndrome. Lancet 2 659,... 

Hair serves to eliminate toxic materials (e.g., lead) and metabolites from the body, and may be used to monitor environmental contamination. For example, copper deficiency is a cause of Menke s kinky hair syndrome protein deficiency leads to hair loss and discoloration. Hair keratin carries a strong negative charge and binds inorganic materials it becomes prone to... 

Copper is an essential element to most life forms. In humans it is the third most abundant trace element only iron and zinc are present in higher quantity. Utilization of copper usually involves a protein active site which catalyzes a critical oxidation reaction, e.g., cytochrome oxidase, amine oxidases, superoxide dismutase, ferroxidases, dopamine-/ -hydrox-ylase, and tyrosinase. Accordingly, animals exhibit unique homeostatic mechanisms for the absorption, distribution, utilization, and excretion of copper (J). Moreover, at least two potentially lethal inherited diseases of copper metabolism are known Wilson s Disease and Menkes s Kinky Hair Syndrome (I). 

Menkes disease patients are unable to absorb copper and hence suffer from the effect of copper deficiency. The disease has a very early age of onset and affected children suffer from neurodegeneration and die before the age of three years. All patients gain very little weight following birth. Several gross abnormahties are noted with hair. They are coarse and brittle and either twisted or fractured at various intervals. This abnormality of hair in Menkes disease led to the disorder to be referred to as kinky hair syndrome. 

Menkes disease is a genetic disease involving mental retardation and death before the age of 3 years. The disease is also called Menkes steely hair syndrome. This term came from the abnormal, steely or kinky hair that results. The hair is tangled, grayish, and easily broken. 

The genetic syndrome referred to as Menkes kinky hair has been studied by Williams et al. (73). No changes were observed following oral copper supplementation in plasma copper concentration or ceruloplasmin concentration in these patients. However, when copper was given intravenously, a rise in ceruloplasmin was seen. The results indicate that in Menkes syndrome, there is a defect in copper-binding protein which leads to excessive losses of copper from the gastrointestinal tract. 

Copper deficiency caused by a genetically determined defect of copper absorption is observed in Menkes disease, also called steely or kinky hair syndrome. Extremely low copper concentrations in blood serum, urine, tissues, and hair are associated with retarded growth and development, bone changes, and severe cerebral degeneration. Clinical improvement can be obtained by copper supplementation [48]. 

Danks, D. M., Campbell, P, E., Stevens, B. J., Mayne, V., and Cartwright, E, (1972a) Menkes s kinky hair syndrome. An inherited defect in copper absorption with widespread effects. Pediatrics 50 188. 

Menkes syndrome is linked to a copper deficiency resulting in abnormal keratinization [167]. In this genetic disorder, the kinky hair symptomatic of this disease results from an unusually high mercaptan level of cysteine, wherein only about 50% of the cysteine is oxidized to disulfide bonds during keratinization. 

Menke s syndrome (kinky hair disease) + + +/- Males with wormian bones, low serum copper and tortuous intracranial vessels... 

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