Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Hypophosphatasia
Introduction
Template:DiseaseDisorder infobox
Hypophosphatasia
Hypophosphatasia
Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. Both autosomal recessive and autosomal dominant variants of the disease exist. The disease comes in one of five forms, perinatal, infantile, childhood, adult, and odontohypophosphatasia. Perinatal hypophosphatasia is invariably lethal while infantile hypophosphatasia has a roughly 50% mortality rate with symptoms appearing within the first 6th months after birth. The other forms are generally non-lethal. Common symptoms include bone malformations and higher chance of bone fracture. Both the adult form and odontohypophosphatasial form are marked by premature teeth loss.
There is no known cure for hypophosphatasia. However, there have been some claims that choline may have positive health benefits for those with the disease that take it as a dietary supplement.
References
References
Rathbun J. (1948). “Hypophosphatasia, a new developmental anomaly”. Am J Dis Child. 75: 822–827.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]