Defects in the biochemistry of collagen in diseases of connective tissue.
Level 5 - mechanism / opinion, no new human data
Narrative review of biochemical mechanisms and molecular pathology
PubMed 1448 · doi:10.1111/1523-1747.ep12481404
What was done
The author reviewed the biochemical pathways of normal collagen synthesis, post-translational processing, and fibrillogenesis, detailing how specific molecular and enzymatic defects lead to heritable connective tissue disorders in humans.
What was found
The abstract reports no quantitative data or patient counts. It summarizes specific biochemical defects associated with primary heritable connective tissue disorders, including lysyl hydroxylase deficiency in Ehlers-Danlos syndrome (EDS) type VI, procollagen peptidase deficiency in EDS type VII, decreased type III collagen synthesis in EDS type IV, lysyl oxidase deficiency in X-linked cutis laxa and EDS type V, and decreased type I collagen synthesis in osteogenesis imperfecta.
Why it matters
This paper maps clinical connective tissue phenotypes directly to specific molecular enzymatic deficiencies and collagen-type synthesis abnormalities, establishing the biochemical basis of disorders like Ehlers-Danlos syndrome and osteogenesis imperfecta.
Limits
This is a qualitative 1976 narrative review without quantitative synthesis, formal study selection methodology, sample sizes, or empirical patient-level clinical data provided in the abstract.
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