Hypophosphatasia is a rare genetic disorder caused by the absence of the activity of one form of the enzyme known as alkaline phosphatase. This form of the enzyme is made in the liver, bone and kidney and helps mineralize the bones. The condition can present in infancy, childhood or adulthood. Those stricken in childhood or adulthood can be treated for the symptoms, but infants cannot. In most severe cases, babies die within hours of birth.

The X-ray to the left shows a knee bone with the changes seen hypophosphatasia.

The X-ray on the right shows the normal knee bone of a nine-month-old child.

Is there a cure?

Montreal-based Enobia Pharma has developed ENB-0040, a drug that may help patients overcome the effects of hypophosphatasia. The drug is currently undergoing testing in Canada and the United States. The
Winnipeg Health Region's Children's Hospital is the first centre in the world to enrol both adults and infants into clinical trials of the drug.

The alkaline phosphatase is given by injection under the skin. The drug was engineered to be attracted preferentially to bone tissue. There it acts by allowing phosphate and calcium to deposit and harden bones.

Bone Matrix

Normally, bone-forming cells called osteoblasts secrete packets of the enzyme alkaline phosphatase. These packets release phosphate groups from the surface of cells, which then combine with calcium and together deposit in the matrix as "bone crystals," as shown in diagram A. In hypophosphatasia these packets of alkaline phosphatase are missing. Thus the matrix cannot calcify and the bone remains soft, as shown in diagram B.

Click here for more information on hypophosphatasia

For information about genetic testing for the condition, please contact your family doctor or visit


About Wave

Wave is published six times a year by the Winnipeg Health Region in cooperation with the Winnipeg Free Press. It is available at newsstands, hospitals and clinics throughout Winnipeg, as well as McNally Robinson Books.

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