Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022716 (Menkes)
 1,057 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Connective tissue disorders affecting skin can be inherited or acquired and might result from an alteration of structure, function or metabolism of the constitutive elements of the supporting matrix. Collagen, the protein building the fibrous framework of the dermis, is considered as an example in understanding such a pathology at the molecular level. The molecular structure, the polymerizing capacity and the degradation of this large protein depends upon the activity of several specific post-transcriptional enzymes operating inside or outside of the cells. Pathology is known to be associated with an altered activity of most of these enzymes. Several pathological skin conditions are defined at the level of their molecular defect as in several types of the Ehlers-Danlos syndrome, osteogenesis imperfecta. Menkes' kinky hair disease, epidermolysis bullosa and scurvy. A similar molecular pathogenesis can be logically hypothesized for various other processes involving connective tissue as in scleroderma, pretibial myxoedema, cheloids, Werner syndrome, aging and corticosteroid induced atrophy.
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PMID:[Connective tissue diseases with cutaneous manifestation (author's transl)]. 75 6

Kinky hair disease, first described in 1962, is a sex-linked disorder, with its gene located on the long arm of the X chromosome close to the centromere. The condition is marked by intellectural deterioration, seizures, and poorly pigmented, friable hair. Bony changes, resembling scurvy, tortuosities of the cerebral and systemic vasculature, and diverticuli of the bladder are also seen. Biochemically, the most diagnostic alteration is a marked reduction in blood copper and ceruloplasmin levels. The mechanism for the low serum copper has not been defined. Even though parental copper administration will correct the biochemical abnormalities, such treatment will not arrest cerebral deterioration.
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PMID:Kinky hair disease: twenty five years later. 283 49

Copper deficiency of nutritional origin has been recognized as an important part of complex nutritional problems in Peru, as an occasional even in premature babies in Western countries, and as a real hazard of over-zealous zinc therapy or of prolonged parenteral alimentation in children or adults. Anaemia, osteoporosis and scurvy-like bone changes are recognized in the deficiency, and they respond to copper. Copper intake is falling in western countries as a result of prepackaging of foods, and low-grade chronic deficiency may become a problem. The features seen in Menkes' syndrome suggest that human beings may be rather susceptible to the vascular and neurological effects of copper deficiency; these effects may be encountered as a consequence of prolonged mild copper deficiency. Measurement of the serum concentrations of caeruloplasmin before and after moderate copper repletion is suggested as a method of detecting mild copper deficiency.
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PMID:Copper deficiency in humans. 611 May 26