[Systemic bone diseases; clues for the pathogenetic mechanism of osteoporosis].

Single gene diseases may give us lots of clues to clarify the physiological roles of specific genes in human body. In the case of bone, extensive analysis of the pathogenetic mechanisms of systemic bone diseases may provide new important information on the factors in bone metabolism. In this manuscript, pathogenetic mechanisms of osteoporosis-pseudoglioma syndrome, osteogenesis imperfecta, homocystinuria, lysinuric protein intolerance and Menkes disease will be reviewed in relation to the pathogenesis of osteoporosis.