Metabolic bone disease (MBD) is an umbrella term that encompasses a broad spectrum of clinically different diseases that share the common finding of an aberrant bone chemical milieu leading to a defective skeleton and bone abnormalities. Metabolic bone diseases are usually characterized by a dramatic clinical presentation and manifestation that are commonly reversible once the underlying defect has been treated. Abnormalities of minerals include calcium, phosphorus, magnesium, or vitamin D developing as a result of dysfunctions of the various factors that control mineral homeostasis. The defective mineralization translates into rickets at the level of the epiphyseal growth plates and osteomalacia on the endocarditis and cancelous bone surfaces. Moreover, osteogenesis imperfecta (OI) pathogenesis has been expanded from a simple collagen defect to abnormalities in bone cell metabolism and development with primary defects in osteoblast differentiation.
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