Biochemical abnormalities in osteogenesis imperfecta.
Osteogenesis imperfecta is likely to be caused by primary disorders of synthesis of organic components of connective tissues accounting for clinical and laboratory observations in several affected tissues. Defects in the structure of collagen is well documented in several instances. There is no evidence of a primary disorder in the synthesis of glycosaminoglycans. Several studies of pyrophosphate metabolism and the hormonal control or the overall metabolic activity of isolated cells do not implicate a pathogenic mechanism for this disorder. Detailed biochemical and further clinical correlations are necessary in order to elucidate the pathogenesis of osteogenesis imperfecta.
D001842:Bone and Bones / Q000378:metabolism; D003094:Collagen / Q000378:metabolism; D004247:DNA / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000151:congenital / Q000209:etiology / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
D006025:Glycosaminoglycans; D003094:Collagen; D004247:DNA