Steely hair disease

Menkes disease ( kinky or steely hair disease) is a disorder of copper metabolism. It is X-hnked, affects... 

Prohaska, J. R, and Wells, W. W. (1974) Copper deficiency in the developing rat brain A possible model for Menkes Steely-Hair Disease. J. Neurochem. 23 91. 

Menkes disease Deficient cross-linking secondary to functional copper deficiency Depigmented (steely) hair Arterial tortuosity, rupture Cerebral degeneration Osteoporosis, anemia... 

Two genetic disorders of copper metabolism, Wilson s disease (see Section 62.2.3.3) and Menkes disease, are known. The latter involves impaired intestinal absorption of copper56,57 as well as probably subcellular metabolic defects which result in copper deficiency with respect to metal-loenzyme activity. The characteristic steely hair in Menkes disease results from free SH bonds in hair protein because of failure of lysyl oxidase to produce the disulfide links. Depigmentation of hair and skin, hypothermia, cerebral degeneration, central nervous system retardation, skeletal demineralization and arterial degeneration are all seen. Copper supplements may benefit hypothermia and increase pigmentation but the disease is not generally cured. 

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 syndn me. I his term came from the abnormal, steely or kinky hair that results. The hair is tangled, grayish, and easily broken. 

Menkes syndrome is a very rare but fatal condition which presents in infants as growth failure and mental retardation, with lesions of the major blt)od vessels and bone disease. A characteristic sign is steely hair (pilo torti). 

Menkes disease is a rare X-linked recessive disease of copper metabolism, the frequency of which has been estimated at between 0.8 and 2 per 100000 live male births (Tonnesen et al. 1991). Clinical manifestations begin in the first few months of life, or even in the neonatal period. Symptoms include hypothermia, hypotonia, poor weight gain, seizures, and neurodevelop-mental delay or regression. The outcome is poor, with death occurring usually by three years of age. Diagnostic characteristics include facial appearance with steely hair, and reduced levels of serum ceruloplasmin and copper (Menkes 1999, Jayawant etal. 

The copper concentrations of the kidneys, spleen, pancreas, and placenta of the diseased fetus were significantly higher than those from controls. Therefore, the gene mutation that occurs in the steely-hair syndrome may affect the copper transport system of organs other than the intestine. 

The recognition of the many pathological anomalies associated with copper deficiency will undoubtedly aid in the diagnosis of ailments that arise when dietary copper is low or unavailable. Support for this statement has already been provided in the section describing Menkes steely hair syndrome. The etiology of this inborn error was discovered when the symptoms of the disease were compared with the symptoms that occur in experimental copper deficiency. 

Menkes steely-hair (kinky hair) disease. Lancet 1 891. 

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]. 

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