Bone health in patients with inborn errors of metabolism

Abstract

Inborn errors of metabolism encompass a wide spectrum of disorders, frequently affecting bone. The most important metabolic disorders that primarily influence calcium or phosphate balance, resulting in skeletal pathology, are hypophosphatemic rickets and hypophosphatasia. Conditions involving bone marrow or affecting skeletal growth and development are mainly the lysosomal storage disorders, in particular the mucopolysaccharidoses. In these disorders skeletal abnormalities are often the presenting symptom and early recognition and intervention improves outcome in many of these diseases. Many disorders of intermediary metabolism may impact bone health as well, resulting in higher frequencies of osteopenia and osteoporosis. In these conditions factors contributing to the reduced bone mineralization can be the disorder itself, the strict dietary treatment, reduced physical activity or sunlight exposure and/or early ovarian failure. Awareness of these primary or secondary bone problems amongst physicians treating patients with inborn errors of metabolism is of importance for optimization bone health and recognition of skeletal complications.