Molecular Defects in Inborn Disorders of Collagen Metabolism

Abstract

Disturbances of collagen metabolism may result in the manifestation of clinical symptoms. The collagen disorders best characterized are genetically inherited and are known to vary at the clinical and molecular levels. Defective posttranslational modifications of collagen chains due to mutant enzymes have been found in patients with the Ehlers-Danlos syndrome and cutis laxa. Altered selection of collagen types and defective primary structure of the molecules themselves are prominent features in osteogenesis imperfecta. In other pathological conditions, such as Marfan syndrome, no clear molecular defect has been identified as yet.