Metabolic Bone Disease: An Overview

Metabolic bone diseases are a heterogenous group of conditions that all result in aberrant bone mineral homeostasis with resulting skeletal disease. The underlying causes are variable, ranging from nutritional deficiencies to pathogenic variants in skeletal genes. To properly diagnose and treat these conditions, a clinician needs to understand bone metabolism as well as recognize the signs of disease in a patient. This review will focus on three relatively common metabolic bone diseases (osteogenesis imperfecta, hypophosphatasia, and X-linked hypophosphatemic rickets) that are caused by genetic variants, not by nutritional deficiency. As molecular DNA sequencing has improved, the scientific community has been able to better understand the genetic basis of these conditions and create sophisticated medical treatments based on the genetic deficiency.