Hypophosphatasia
Definition
Hypophosphatasia is an inherited bone disease whose clinical symptoms are highly variable, ranging from a profound lack of mineralization of bone with death occurring prior to delivery up to early loss of teeth in adulthood as the only sign. Still other affected individuals may have the characteristic biochemical abnormality but no outward clinical signs of the disorder. Hypophosphatasia is due to consistently low levels of an important enzyme in the body, alkaline phosphatase.
Description
The term hypophosphatasia was first coined in 1948 by a Canadian pediatrician, Dr. J.C. Rathbun. He used it to describe a male infant who developed and then died from severe rickets, weight loss, and seizures. Levels of the enzyme alkaline phosphatase were below normal in samples of blood and...
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