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Kinky hair disease

Jayawant S, Halpin S and Waliacf S (2000) Menkes kinky hair disease an unusual case. Eur J Paediatr Neurol 4 131-134. [Pg.473]

Menke s syndrome (kinky hair disease) + + +/- Males with wormian bones, low serum copper and tortuous intracranial vessels... [Pg.171]

Halliwell B, Gutteridge JM (1985) The importance of free radicals and catalytic metal ions in human diseases. Mol Aspects Med 8 89-193 Hamer DH (1986) Metallothionein. Annu Rev Biochem 55 913-951 Hamer DH (1993) Kinky hair disease sheds light on copper metabolism. Nat Genet 3 3-4... [Pg.115]

Menkes steely-hair (kinky hair) disease. Lancet 1 891. [Pg.134]

R. R, W. (1973b) Menkes kinky hair disease Further definition of the defect in copper transport. Science 179 1140. [Pg.134]

Menkes disease ( kinky or steely hair disease) is a disorder of copper metabolism. It is X-hnked, affects... [Pg.588]

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). [Pg.265]

Copper Anaemia Menkes (kinky hair) syndrome Cardiac abnormalities/heart disease Wilson s disease Hepatic injury and jaundice Headache, vomiting Haemolytic shock... [Pg.66]

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. [Pg.5389]

Deficiency—may result in anemia and mental retardation. In Menkes Disease, there is a defect in copper transport and utilization, associated with brittle kinky hair, cerebral degeneration, and infant death. [Pg.67]

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. [Pg.818]

Copper Anaemia, kinky hair Wilson s Disease liver... [Pg.22]

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. [Pg.63]

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. [Pg.97]

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]. [Pg.21]

In 1962, Menkes and his colleagues (1962) wrote a detailed description of a degenerative disease of the central nervous system. The condition was inherited as a sex-linked recessive trait and the affected males were both physically and mentally retarded and had peculiar white, stubbly hair. Later, O Brien and Sampson (1966), who first coined the name "Kinky Hair Bisease", examined the fatty acid levels in brain tissue from Menkes patients and found a decreased quantity of docosahexenoic acid, a highly unsaturated fatty acid. At that time, the significance of the peroxidation of lipids was not understood. [Pg.128]

Menkes s Disease. In 1962 Menkes and coworkers [17] reported an invariably fatal, progressive brain disease inherited in a X-linked recessive manner. The disease is characterized by focal cerebral and cerebeller degeneration, retardation of growth, and peculiar hair, called kinky... [Pg.342]

In Menkes disease, copper is not absorbed in the intestine and is not available for distribution throughout the body. Consequently, cuproenzymes such as cytochrome c oxidase, lysyl oxidase, and dopamine beta hydroxylase cannot function normally. Sufferers exhibit severe developmental delay subnormal body temperature kinky, steel-colored hair seizures and ultimately the degeneration of muscle, bone, and organs. Baby boys bom with the most severe form of Menkes disease typically do not live beyond then-third year of life. [Pg.881]


See other pages where Kinky hair disease is mentioned: [Pg.67]    [Pg.528]    [Pg.566]    [Pg.170]    [Pg.238]    [Pg.128]    [Pg.134]    [Pg.135]    [Pg.67]    [Pg.528]    [Pg.566]    [Pg.170]    [Pg.238]    [Pg.128]    [Pg.134]    [Pg.135]    [Pg.385]    [Pg.648]    [Pg.648]    [Pg.667]    [Pg.380]    [Pg.6793]    [Pg.632]    [Pg.418]    [Pg.956]    [Pg.558]    [Pg.955]    [Pg.304]    [Pg.569]   
See also in sourсe #XX -- [ Pg.588 ]




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