Genetic disorders of collagen metabolism.

Abstract

The first of the true genetic disorders of collagen metabolism, lysyl hydroxylase deficiency, was described in 1972 (Pinnell et al., 1972), and since that time there has been continued expansion of the biochemical understanding of inherited connective tissue disorders that involve collagen. In that period abnormalities in collagen structure, biosynthesis, post-translational modification, and degradation have been identified in the Ehlers-Danlos syndrome, the Marfan syndrome, osteogenesis imperfecta, cutis laxa, a small number of chondrodystrophies, and forms of epidermolysis bullosa.