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Collagen Disorders

- Discussion:
    - the biosynthesis of collagen involves many complex processes that are subject to biologic control;
    - these processes can be disrupted at any point by metabolic disorders such as:
          - scurvy;
          - lathyrism;
    - genetic collagen diseases:
          - Ehlers-Danlos syndrome
                 - the collagen extracted from pts with type VI Ehlers-Danlos syndrome is known to be deficient in hydroxylysine;
                 - type VII Ehlers-Danlos syndrome is now known to be associated w/ a deficiency of procollagen peptidase;
                         - once the osteoblasts secretes procollagen, the patient either has no procollagen peptidase to remove the amino terminal 
                                endpiece or the patient does have procollagen peptidase, but it is inactive due to defect located within the chain;
          - Osteogenesis Imperfecta
          - Marfan's syndrome

Etiology and pathogenesis of heritable connective tissue diseases.

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