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Metabolic and brittle bone disease

Metabolic and brittle bone disease

Metabolic bone disease is an umbrella term for disorders that are caused by an abnormal bone cell function. Metabolic bone diseases affect all bones in the body to some extent.

There are two main types of bone cells – those that build bone and those that remove bone. Disturbances in the function of these cells can cause a variety of different metabolic bone disorders, such as rickets and osteoporosis.

When bone forming cells cannot put enough calcium or phosphate into the bones, the bones will become soft, leading to a disease called rickets. When not enough bone is produced or too much bone material is removed, osteoporosis occurs.

Brittle bone disease (also called osteogenesis imperfecta) is a special form of osteoporosis. In this disorder, the bone forming cells have a genetic abnormality and produce low-quality bone that is too brittle.

Osteogenesis imperfecta

Osteogenesis imperfecta (OI) is a heritable disorder that causes bones to break easily. Children with OI can break their bones after small accidents that would not lead to fractures in other children with normal bone. Research at Shriners Hospitals for Children — Canada has led to important advances in the care of children with OI, such as bone-strengthening medical treatment with bisphosphonates and the Fassier-Duval rod to surgically straighten bones in the leg and arms. Shriners Hospitals for Children — Canada has one of the largest OI patient populations in the world.

In addition to medical and surgical treatments, the Canada Shriners Hospital has a multidisciplinary team of experienced nurses, therapists and social workers that work closely with children and their families. Monthly OI clinics allow families to meet and share their experiences. Additionally, we have a specialized clinical laboratory for helping children with OI. Our research laboratories are active in finding new approaches to treatment.


Rickets is one of the most frequent metabolic bone diseases seen at Shriners Hospitals for Children — Canada. Rickets is almost always caused by an abnormality related to the metabolism of calcium, phosphate or vitamin D. In these circumstances, the bone-forming cells cannot put sufficient amounts of calcium or phosphate into the bones, which make the bones unusually soft. This often leads to bowing of the legs.

Rickets can occur when children do not have enough calcium and vitamin D in their diet or when they do not spend a sufficient amount of time in the sun. Rickets can also be the consequence of genetic abnormalities that make it difficult for the body to produce active vitamin D. Another form of rickets is caused by a genetic defect that makes the kidneys unable to retain phosphate in the body.

All of these forms of rickets can usually be treated by giving sufficient amounts of calcium, phosphate and vitamin D. However, when bowing of the legs is very severe, it may be necessary to perform surgery to straighten the legs.

To make an appointment

New patients:
Phone: 514-282-6971
Fax: 514-282-7221

Current patients:
Phone: 514-842-4464, ext. 6986