Hypophosphatasia

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Hypophosphatasia
ICD-10 E83.3
ICD-9 275.3
OMIM 146300 240500 240510
MeSH D007014

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

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

Rathbun J. (1948). "Hypophosphatasia, a new developmental anomaly". Am J Dis Child. 75: 822–827.

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