Collagen biosynthesis disorders

Scriver CR et al (editors) The Metabolic and Molecular Bases of Inherited Disease, 8th ed. McGraw-Hill, 2001 (This comprehensive four-volume text contains chapters on disorders of collagen biosynthesis and structure, Marfan syndrome, the mucopolysaccharidoses, achondroplasia, Alport syndrome, and craniosynostosis syndromes.)... 

SeveraL important diseases associated with defective coflagen production are shown in Table 1-4-2. Table 1-4-2. Disorders of Collagen Biosynthesis... 

There are a number of collagen-related disorders that have been identified. Many of these are the result of derangements in the biosynthesis of... 

Since all copper-dependent enzymes and metabolism are affected, biosynthesis of elastin and collagen is defective. Menkes victims usually die before 3 years of age, frequently from neurodegenerative defects or connective tissue disorders (Danks 1989). Identification of the Menkes gene or the Wilson s gene will not provide a cure. However, as with other hereditary diseases, early diagnosis gives promise for a major reduction in the frequencies of these diseases. 

From Prockop, D. J., Kivirikko, K. I., Tuderman, L. and Guzman, N. A. (1979) The biosynthesis of collagen and its disorders. New England Journal of Medicine 301, 16, reprinted by kind permission of Authors and The New England Journal of Medicine. 

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